785726009: Hyperekplexia epilepsy syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)

\Muscle finding\Disorder of muscle\Hyperekplexia epilepsy syndrome (disorder)
\Muscle finding\Myoclonus\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Neurological finding\Reflex finding\Abnormal reflex\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)
\Neurological finding\Myoclonus\Hyperexplexia\Hyperekplexia epilepsy syndrome (disorder)

\Disease\Genetic disease\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of muscle\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Movement disorder\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hyperekplexia epilepsy syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3768170013 Hyperekplexia epilepsy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768171012 Hyperekplexia epilepsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768172017 A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408740011 A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408741010 A rare, X-linked, syndromic intellectual disability disease characterised by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperekplexia epilepsy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	Epilepsy	false	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	Intellectual disability	false	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	Disorder of muscle	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	Movement disorder	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Reflex	true	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	Hyperexplexia	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	3
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Evaluation procedure (procedure)	false	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Hyperekplexia epilepsy syndrome (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	2
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Movement	false	Inferred relationship	Some	6
Hyperekplexia epilepsy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Hyperekplexia epilepsy syndrome (disorder)	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	4
Hyperekplexia epilepsy syndrome (disorder)	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3768170013	Hyperekplexia epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3768171012	Hyperekplexia epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3768172017	A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408740011	A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408741010	A rare, X-linked, syndromic intellectual disability disease characterised by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core