1172624000: Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Genetic disease\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \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 global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \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.\Intellectual disability\Genetic intellectual disability\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5399352014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399353016	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, intellectual disability, hypotonia, seizures, and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634829018	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634830011	RERE-related neurodevelopmental syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634831010	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5768761000241116	trouble neurologique du développement associé au gène RERE	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5768771000241112	syndrome neurodéveloppemental causé par des répétitions du dipeptide arginine-acide glutamique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434471001000111	RERE-assoziierte neurologische Entwicklungsstörung	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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