Code System Concept

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Code System Concept

Code System Concept Code	768846004
Code System Concept Name	N-glycanase 1 congenital disorder of deglycosylation (disorder)
Code System Preferred Concept Name	N-glycanase 1 congenital disorder of deglycosylation (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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	An inherited disease with usual onset of signs in infancy. The severity of the signs and symptoms varies widely among people with the condition. Typical features include delayed development of speech and motor skills, hypotonia, choreoathetosis refractory seizures, problems with liver function, optic atrophy, alacrima. Caused by mutations in the NGLY1 gene. The enzyme produced from this gene N-glycanase 1, helps cells remove abnormal proteins. The gene mutation results in a severe reduction or absence of the enzyme function. Inherited in an autosomal recessive pattern.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3687228018	NGLY1-congenital disorder of deglycosylation	Active	Synonym	false	false
3687229014	Alacrimia, choreoathetosis, liver dysfunction syndrome	Active	Synonym	false	false
3687230016	Deficiency of N-glycanase 1	Active	Synonym	false	false
3687231017	N-glycanase 1 congenital disorder of deglycosylation	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) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of glycoprotein metabolism (disorder) {238045003 , 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,