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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\...
• \épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Increased muscle tone\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding\Spasticity\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\...
• \épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Symptomatic generalized epilepsy\Myoclonic encephalopathy\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\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
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

Expanded Value Set

This concept is not in any reference sets

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