785726009: Hyperekplexia epilepsy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Encephalopathy\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hyperekplexia epilepsy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hyperekplexia epilepsy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hyperekplexia epilepsy syndrome

\Muscle finding\Myopathy\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\Neurological disorder\Hereditary disorder of nervous system\Hyperekplexia epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Hyperekplexia epilepsy syndrome
\Disease\Myopathy\Hyperekplexia epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\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, Primitive. 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 Case insensitive SNOMED CT core

3768171012 Hyperekplexia epilepsy syndrome en Synonym Active Case insensitive 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 Active Case sensitive SNOMED CT core

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	Some
Hyperekplexia epilepsy syndrome	Is a	Epilepsy	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Is a	Myopathy	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Is a	Movement disorder	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome	Interprets	Reflex	true	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Is a	Hyperexplexia	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	3
Hyperekplexia epilepsy syndrome	Interprets	Evaluation procedure	false	Inferred relationship	Some	1
Hyperekplexia epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Hyperekplexia epilepsy syndrome	Finding site	Muscle structure	true	Inferred relationship	Some	2
Hyperekplexia epilepsy syndrome	Interprets	Movement	true	Inferred relationship	Some	6
Hyperekplexia epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Hyperekplexia epilepsy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Hyperekplexia epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hyperekplexia epilepsy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Hyperekplexia epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3768170013	Hyperekplexia epilepsy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3768171012	Hyperekplexia epilepsy syndrome	en	Synonym	Active	Case insensitive	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	Active	Case sensitive	SNOMED CT core