725163002: X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \General finding of soft tissue\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding (finding)\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked spasticity, intellectual disability, epilepsy 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\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3440997018	X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440998011	X-linked spasticity, intellectual disability, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403430012	A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403431011	A rare ARX-related epileptic encephalopathy characterised by infantile onset of myoclonic epilepsy with generalised spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalised hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440997018	X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440998011	X-linked spasticity, intellectual disability, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440999015	This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441000016	This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403430012	A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403431011	A rare ARX-related epileptic encephalopathy characterised by infantile onset of myoclonic epilepsy with generalised spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalised hyperreflexia. Late onset progressive spastic ataxia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418931001000118	X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418931001000118	X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom	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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