717223008: X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Mental illness\Developmental mental disorder\Disruptive behaviour disorder\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Mental illness\Developmental mental disorder\Learning disability\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disruptive behaviour disorder\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Learning disability\X-linked epilepsy with learning disability and behaviour disorder syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked epilepsy with learning disability and behaviour disorder syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308719012	X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3308720018	X-linked epilepsy with learning disability and behavior disorder syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3308721019	X-linked epilepsy with learning disability and behaviour disorder syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3308722014	This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	en	Definition	Active	Case sensitive	SNOMED CT core
3308723016	This syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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