724351008: Hereditary hyperekplexia (disorder)

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\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 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)\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)\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\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:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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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