Code System Concept

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Code System Concept

Code System Concept Code	787175002
Code System Concept Name	Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)
Code System Preferred Concept Name	Ankyrin 3 related intellectual disability, sleep disturbance 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Superseded By Concept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	07/31/2019
SDO Date Created	07/31/2019
SDO Date Revised	07/31/2019
Description	A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3774809018	ANK3-related intellectual disability, sleep disturbance syndrome	Active	Synonym	false	false
3774810011	Ankyrin 3 related intellectual disability, sleep disturbance syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dyssomnia (disorder) {44186003 , SNOMED-CT } Intellectual disability (disorder) {110359009 , 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,