1186711002: G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Cardiovascular finding\Cardiac finding\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Genetic disease\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\A disorder in which there is abnormal electrical activity in the heart.\A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5399508017	A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399509013	A rare genetic disease characterised by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastro-oesophageal reflux. The severity of the phenotype is highly variable.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667394010	GNB5-related intellectual disability, cardiac arrhythmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673230016	G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673231017	G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6158851000241111	syndrome de déficience intellectuelle et arythmie cardiaque associé à GNB5 (G protein subunit beta 5)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428211001000111	Intelligenzminderung-Herzrhythmusstörung-Syndrom durch GNB5-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

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

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