724351008: hereditaire hyperekplexie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement (finding)\Involuntary movement\Myoclonus\Hyperexplexia\Hereditary hyperekplexia (disorder)
• \Finding of movement (finding)\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia (disorder)
• \Muscle finding\Disorder of muscle\Congenital myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Muscle finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia (disorder)
• \Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hereditary hyperekplexia (disorder)
• \Neurological finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary hyperekplexia (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia (disorder)
• \Disease\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia (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
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
6459921000146117	hereditaire hyperekplexie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6459931000146115	hereditaire hyperekplexie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6460041000146113	startle disease	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6460051000146111	stiff baby syndrome	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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