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\RERE-related neurodevelopmental syndrome

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\RERE-related neurodevelopmental syndrome
\Functional finding\Cognitive function finding (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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\RERE-related neurodevelopmental syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\RERE-related neurodevelopmental syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RERE-related neurodevelopmental syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RERE-related neurodevelopmental syndrome
\Disease\Developmental disorder\Congenital malformation\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, 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

10008051000172119 trouble neurologique du développement associé au gène RERE fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10008061000172117 syndrome neurodéveloppemental causé par des répétitions du dipeptide arginine-acide glutamique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7514341000172119 RERE-gerelateerd neurologisch ontwikkelingssyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7514351000172117 RERE-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7514361000172115 aan arginine-glutaminezuurdipeptideherhalingen gerelateerd neurobiologisch ontwikkelingssyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RERE-related neurodevelopmental syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
RERE-related neurodevelopmental syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
RERE-related neurodevelopmental syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
RERE-related neurodevelopmental syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
RERE-related neurodevelopmental syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
RERE-related neurodevelopmental syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
RERE-related neurodevelopmental syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
RERE-related neurodevelopmental syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
10008051000172119	trouble neurologique du développement associé au gène RERE	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10008061000172117	syndrome neurodéveloppemental causé par des répétitions du dipeptide arginine-acide glutamique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7514341000172119	RERE-gerelateerd neurologisch ontwikkelingssyndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7514351000172117	RERE-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7514361000172115	aan arginine-glutaminezuurdipeptideherhalingen gerelateerd neurobiologisch ontwikkelingssyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)