784377008: Familial epilepsy with auditory features (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Finding of head region\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Finding of head region\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\...
• \A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Genetic disease\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\A type of focal epilepsy where all the seizures originate within the temporal lobe.\A type of focal epilepsy where all the seizures originate within the lateral area of the temporal lobe.\A type of temporal lobe epilepsy that presents typically between 10 and 30 years (range 0.5 to 54 years) with focal aware sensory auditory seizures and/or focal cognitive seizures with receptive aphasia. Auditory seizures typically consist of simple unformed sounds (e.g., humming, buzzing, or ringing), or less commonly auditory distortions (such as alteration in volume) or complex sounds (e.g., specific songs or voices). Cognitive seizures manifest as receptive aphasia, consisting of an inability to understand spoken language in the absence of an impairment of awareness. Focal impaired awareness and focal to bilateral tonic-clonic seizures may occur. Development and cognition are typically normal. Neurological examination is normal. The interictal EEG is normal but may have focal (usually temporal) sharp-and-wave or spikes, that can also be widespread. MRI is normal or shows focal cortical dysplasia.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
• \Disease\Familial disease\A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.\A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.

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
5408702013	A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408703015	A rare, genetic, familial partial epilepsy disease characterised by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763854011	Autosomal dominant epilepsy with auditory features	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763855012	Autosomal dominant lateral temporal lobe epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380923012	Familial epilepsy with auditory features	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380924018	Familial epilepsy with auditory features (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380925017	FEAF - familial epilepsy with auditory features	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5947201000241112	épilepsie autosomique dominante avec aura auditive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396831001000119	Autosomal-dominante fokale Epilepsie mit akustischen Merkmalen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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