Code System Concept

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Code System Concept

Code System Concept Code	1269236003
Code System Concept Name	Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder)
Code System Preferred Concept Name	Primary hypomagnesemia, refractory seizures, intellectual disability 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Superseded By Concept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	04/30/2023
SDO Date Revised	04/30/2023
Description	A rare genetic disorder of magnesium transport characterised by infantile onset of generalised seizures and severe hypomagnesaemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5183289019	Primary hypomagnesemia, refractory seizures, intellectual disability syndrome	Active	Synonym	false	false
5183291010	Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Generalized onset epileptic seizure (finding) {246545002 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Global developmental delay (disorder) {224958001 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Primary hypomagnesemia (disorder) {80710001 , SNOMED-CT } Seizure disorder (disorder) {128613002 , 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,