Code System Concept

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Code System Concept

Code System Concept Code	1295529002
Code System Concept Name	Xp21 deletion syndrome (disorder)
Code System Preferred Concept Name	Xp21 deletion 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Superseded By Concept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	03/01/2024
SDO Date Created	12/01/2023
SDO Date Revised	12/01/2023
Description	A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5283917017	Xp21 microdeletion syndrome	Active	Synonym	false	false
5283918010	Xp21 contiguous gene deletion syndrome	Active	Synonym	false	false
5283920013	Xp21 deletion syndrome	Active	Synonym	false	false
5283921012	Complex GKD (complex glycerol kinase deficiency)	Active	Synonym	false	false
5283922017	Complex glycerol kinase deficiency	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)

Anomaly of chromosome X (disorder) {111312006 , SNOMED-CT } Congenital hypoplasia of adrenal gland (disorder) {93235007 , SNOMED-CT } Deficiency of glycerol kinase (disorder) {124322002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of endocrine system (disorder) {363104002 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , 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,