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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\RERE-related neurodevelopmental syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\RERE-related neurodevelopmental syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\RERE-related neurodevelopmental syndrome

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
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
4634832015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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

Expanded Value Set

This concept is not in any reference sets

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