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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308720018	X-linked epilepsy with learning disability and behavior disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308721019	X-linked epilepsy with learning disability and behaviour disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401513017	X-linked epilepsy-learning disabilities-behavior disorders 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401514011	X-linked epilepsy-learning disabilities-behaviour disorders 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308719012	X-linked epilepsy with learning disability and behavior disorder syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308720018	X-linked epilepsy with learning disability and behavior disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308721019	X-linked epilepsy with learning disability and behaviour disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401513017	X-linked epilepsy-learning disabilities-behavior disorders 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401514011	X-linked epilepsy-learning disabilities-behaviour disorders 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389171001000119	X-chromosomale Epilepsie mit Lernstörungen und Verhaltensauffälligkeiten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389171001000119	X-chromosomale Epilepsie mit Lernstörungen und Verhaltensauffälligkeiten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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