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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\Disorder of skeletal AND/OR smooth muscle\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\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Hereditary hyperekplexia
\Disease\Disorder of body system\Disorder of nervous system\Myoclonic disorder\Hereditary hyperekplexia
\Disease\Disorder of skeletal AND/OR smooth muscle\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3434354014 Hereditary hyperekplexia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3434355010 Hereditary hyperekplexia en Synonym Active Entire term case insensitive SNOMED CT core module
3434356011 Congenital stiff man syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3434357019 Familial startle disease en Synonym Active Entire term case insensitive SNOMED CT core module
3434358012 Hereditary hyperexplexia en Synonym Active Entire term case insensitive SNOMED CT core module
3434359016 Kok disease en Synonym Active Entire term case sensitive SNOMED CT core module
3434360014 Stiff baby syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hyperekplexia	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Is a	Myoclonic disorder	true	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hereditary hyperekplexia	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	1
Hereditary hyperekplexia	Finding site	Skeletal and/or smooth muscle structure	true	Inferred relationship	Existential restriction modifier	2
Hereditary hyperekplexia	Interprets	Reflex	true	Inferred relationship	Existential restriction modifier	3
Hereditary hyperekplexia	Is a	Disorder of skeletal AND/OR smooth muscle	true	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hereditary hyperekplexia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Hereditary hyperekplexia	Is a	Hyperexplexia	true	Inferred relationship	Existential restriction modifier
Hereditary hyperekplexia	Interprets	Evaluation procedure	false	Inferred relationship	Existential restriction modifier	1
Hereditary hyperekplexia	Interprets	Movement	false	Inferred relationship	Existential restriction modifier	5
Hereditary hyperekplexia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	4
Hereditary hyperekplexia	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3434354014	Hereditary hyperekplexia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3434355010	Hereditary hyperekplexia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3434356011	Congenital stiff man syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3434357019	Familial startle disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3434358012	Hereditary hyperexplexia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3434359016	Kok disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3434360014	Stiff baby syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module