724351008: Hereditary hyperekplexia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement\Involuntary movement\Myoclonus (finding)\Hyperexplexia (finding)\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Finding of movement\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Muscle finding (finding)\Disorder of muscle\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Muscle finding (finding)\Myoclonus (finding)\Hyperexplexia (finding)\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia (finding)\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Neurological finding\Myoclonus (finding)\Hyperexplexia (finding)\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Disorder of muscle\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.
• \Disease\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.

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
3434354014	Hereditary hyperekplexia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434355010	Hereditary hyperekplexia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434356011	Congenital stiff man syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434357019	Familial startle disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434358012	Hereditary hyperexplexia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434359016	Kok disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434360014	Stiff baby syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403314017	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403315016	Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434354014	Hereditary hyperekplexia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434355010	Hereditary hyperekplexia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434356011	Congenital stiff man syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434357019	Familial startle disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434358012	Hereditary hyperexplexia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434359016	Kok disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434360014	Stiff baby syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434361013	A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403314017	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403315016	Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3414671001000116	Hyperekplexie, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989801000172117	hyperexplexie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
898201000172116	hyperekplexie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989801000172117	hyperexplexie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414671001000116	Hyperekplexie, hereditäre	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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