Code System Concept

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Code System Concept

Code System Concept Code	1332510002
Code System Concept Name	Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
Code System Preferred Concept Name	Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (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Superseded By Concept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	09/01/2024
SDO Date Created	05/01/2024
SDO Date Revised	05/01/2024
Description	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5354690019	Sifrim Hitz Weiss syndrome	Active	Synonym	false	false
5354691015	Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder	Active	Synonym	false	false
5354693017	CHD4-related neurodevelopmental disorder	Active	Synonym	false	false
5354694011	CHD4-related neurodevelopmental syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } Speech delay (disorder) {229721007 , 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,