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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Hyperekplexia epilepsy syndrome (disorder)

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

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

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of muscle\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Movement disorder\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Hyperekplexia epilepsy syndrome (disorder)
\Disease\Developmental disorder (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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

3453271001000110 Hyperekplexie - Epilepsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6057131000241117 syndrome d'hyperexplexie et épilepsie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6057131000241117 syndrome d'hyperexplexie et épilepsie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3453271001000110 Hyperekplexie - Epilepsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperekplexia epilepsy syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	Epilepsy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	Disorder of muscle	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Reflex	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperekplexia epilepsy syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	Hyperexplexia (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Evaluation procedure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperekplexia epilepsy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hyperekplexia epilepsy syndrome (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hyperekplexia epilepsy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hyperekplexia epilepsy syndrome (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hyperekplexia epilepsy syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hyperekplexia epilepsy syndrome (disorder)	Is a	Developmental and epileptic encephalopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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 (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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453271001000110	Hyperekplexie - Epilepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6057131000241117	syndrome d'hyperexplexie et épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6057131000241117	syndrome d'hyperexplexie et épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453271001000110	Hyperekplexie - Epilepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module