768666006: Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (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)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Early infantile epileptic encephalopathy with suppression bursts\Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686408013	STXBP1-related early-onset encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686409017	Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686410010	STXBP1 encephalopathy with epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686411014	STXBP1 (syntaxin binding protein 1) epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686412019	Syntaxin binding protein 1 encephalopathy with epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686413012	Early infantile epileptic encephalopathy 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686414018	STXBP1-related epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404741017	A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404742012	A rare genetic neurological disorder characterised by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686408013	STXBP1-related early-onset encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686409017	Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686410010	STXBP1 encephalopathy with epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686411014	STXBP1 (syntaxin binding protein 1) epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686412019	Syntaxin binding protein 1 encephalopathy with epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686413012	Early infantile epileptic encephalopathy 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686414018	STXBP1-related epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686416016	Disorder with characteristics of recurrent seizures, encephalopathy, and intellectual disability with typical onset in infancy. In most cases, seizures cease by age one, however the other neurological symptoms persist. The most common seizures are infantile spasms, however other seizure types associated with this disease include myoclonic seizures, atonic seizures, absence seizures, tonic-clonic seizures. Most individuals have more than one type of seizure and they may be refractory. Caused by mutations in the STXBP1 gene. STXBP1 gene mutations reduce the amount of functional protein produced which impairs the release of neurotransmitters from neurons, a change in levels may result in seizures. Inherited in an autosomal dominant pattern however most cases result from de novo mutations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404741017	A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404742012	A rare genetic neurological disorder characterised by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5927241000241112	encéphalopathie liée à STXBP1 (syntaxin-binding protein 1) avec épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5927251000241110	encéphalopathie liée à la protéine de liaison de la syntaxine 1 avec épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5927241000241112	encéphalopathie liée à STXBP1 (syntaxin-binding protein 1) avec épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5927251000241110	encéphalopathie liée à la protéine de liaison de la syntaxine 1 avec épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

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

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