724351008: Hereditary hyperekplexia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement\Involuntary movement\Myoclonus\Hyperexplexia\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Finding of movement\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

\Muscle finding\Disorder of muscle\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Muscle finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

\Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Neurological finding\Myoclonus\Hyperexplexia\Hereditary hyperekplexia is a hereditary neurological disorder characterized 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 characterized by excessive startle responses.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
\Disease\Disorder of muscle\Hereditary hyperekplexia is a hereditary neurological disorder characterized 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 characterized by excessive startle responses.
\Disease\Movement disorder\Myoclonic disorder\Hereditary hyperekplexia is a hereditary neurological disorder characterized 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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Myoclonic disorder	true	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	2
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Interprets	Reflex	true	Inferred relationship	Some	3
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Disorder of muscle	true	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Occurrence	Congenital	true	Inferred relationship	Some	2
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Hyperexplexia	true	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Interprets	Determination of a value, conclusion, or inference by evaluating evidence	false	Inferred relationship	Some	1
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Interprets	mouvement	false	Inferred relationship	Some	5
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Interprets	mouvement	false	Inferred relationship	Some	4
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Interprets	Movement observable	true	Inferred relationship	Some	4

Inbound Relationships

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Active

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Characteristic

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
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
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