Code System Concept

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Code System Concept

Code System Concept Code	1172624000
Code System Concept Name	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)
Code System Preferred Concept Name	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	09/30/2021
SDO Date Revised	09/30/2021
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4634829018	Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome	Active	Synonym	false	false
4634830011	RERE-related neurodevelopmental syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Congenital anomaly of central nervous system (disorder) {128124001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Global developmental delay (disorder) {224958001 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,