785726009: Hyperekplexia epilepsy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Hyperekplexia epilepsy syndrome

\Finding of movement\Involuntary movement\Myoclonus\Hyperexplexia\Hyperekplexia epilepsy syndrome
\Finding of movement\Movement disorder\Hyperekplexia epilepsy syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hyperekplexia epilepsy syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Hyperekplexia epilepsy syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Hyperekplexia epilepsy syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Hyperekplexia epilepsy syndrome
\Muscle finding\Myoclonus\Hyperexplexia\Hyperekplexia epilepsy syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hyperekplexia epilepsy syndrome
\Neurological finding\Myoclonus\Hyperexplexia\Hyperekplexia epilepsy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Hyperekplexia epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Hyperekplexia epilepsy syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Disease\Movement disorder\Hyperekplexia epilepsy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hyperekplexia epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3768170013 Hyperekplexia epilepsy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3768171012 Hyperekplexia epilepsy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperekplexia epilepsy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	Disorder of skeletal AND/OR smooth muscle	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	1
Hyperekplexia epilepsy syndrome	Interprets	Reflex	true	Inferred relationship	Existential restriction modifier	1
Hyperekplexia epilepsy syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	Hyperexplexia	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	3
Hyperekplexia epilepsy syndrome	Interprets	Evaluation procedure	false	Inferred relationship	Existential restriction modifier	1
Hyperekplexia epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Hyperekplexia epilepsy syndrome	Finding site	Skeletal and/or smooth muscle structure	true	Inferred relationship	Existential restriction modifier	2
Hyperekplexia epilepsy syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	6
Hyperekplexia epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Hyperekplexia epilepsy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Hyperekplexia epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Hyperekplexia epilepsy syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Hyperekplexia epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

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
3768170013	Hyperekplexia epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3768171012	Hyperekplexia epilepsy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module