724351008: Hereditary hyperekplexia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Involuntary movement\Myoclonus\Hyperexplexia\Hereditary hyperekplexia
• \Finding of movement\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia
• \Muscle finding\Myopathy\Hereditary hyperekplexia
• \Muscle finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia
• \Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hereditary hyperekplexia
• \Neurological finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary hyperekplexia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Disorder of body system\Neurological disorder\Myoclonic disorder\Hereditary hyperekplexia
• \Disease\Myopathy\Hereditary hyperekplexia
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
• \Disease\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3434355010	Hereditary hyperekplexia	en	Synonym	Active	Case insensitive	SNOMED CT core
3434356011	Congenital stiff man syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3434357019	Familial startle disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3434358012	Hereditary hyperexplexia	en	Synonym	Active	Case insensitive	SNOMED CT core
3434359016	Kok disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3434360014	Stiff baby syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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