Code System Concept

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Code System Concept

Code System Concept Code	54954004
Code System Concept Name	Aspartylglucosaminuria (disorder)
Code System Preferred Concept Name	Aspartylglucosaminuria (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1231386017	Aspartylglycosylaminase deficiency	Active	Synonym	false	false
91352015	Aspartylglucosaminuria	Active	Synonym	false	false
91353013	Aspartylglycosaminuria	Active	Synonym	false	false
91354019	Aspartylglucosaminidase deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of glycoprotein metabolism (disorder) {238045003 , SNOMED-CT } Disorder of skeletal system (disorder) {88230002 , SNOMED-CT } Dysostosis multiplex group (disorder) {279081001 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Oligosaccharidosis (disorder) {1155842003 , 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,