1222659003: Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Body measurement finding\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Genetic disease\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
• \Disease\Developmental disorder\Developmental delay\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5399992015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399993013	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048348017	Ring finger protein 13-related severe early-onset epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048349013	Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048350013	RNF13-related severe early-onset epileptic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7758141000241110	encéphalopathie épileptique sévère à début précoce associée à RNF13 (ring finger protein 13)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432491001000117	Enzephalopathie, epileptische, frühinfantile, RNF13-assoziierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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