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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RERE-related neurodevelopmental syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\RERE-related neurodevelopmental syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\RERE-related neurodevelopmental syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RERE-related neurodevelopmental syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\RERE-related neurodevelopmental syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
4634830011	RERE-related neurodevelopmental syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4634831010	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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