Code System Concept

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Code System Concept

Code System Concept Code	773648002
Code System Concept Name	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)
Code System Preferred Concept Name	Congenital cataract, hearing loss, severe developmental delay 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3725383015	Congenital cataract, hearing loss, severe developmental delay syndrome	Active	Synonym	false	false
3725384014	Congenital cataract, deafness, severe developmental delay syndrome	Active	Synonym	false	false
3725385010	Lethal neurodegenerative disorder due to copper transport defect	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital cataract (disorder) {79410001 , SNOMED-CT } Congenital sensorineural hearing loss (disorder) {700453005 , SNOMED-CT } Developmental delay (disorder) {248290002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of ear (disorder) {25906001 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , 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,