785726009: Hyperekplexia epilepsy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\mouvement involontaire (constatation)\myoclonie\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Hyperekplexia 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\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\Hyperekplexia epilepsy syndrome (disorder)
• \constatation à propos d'un muscle\myoclonie\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)
• \Neurological finding\myoclonie\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hyperekplexia 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\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\affection musculaire\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\Movement disorder\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3768170013	Hyperekplexia epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3768171012	Hyperekplexia epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3768172017	A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.	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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