Code System Concept

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Code System Concept

Code System Concept Code	715980003
Code System Concept Name	Encephalopathy due to sulfite oxidase deficiency (disorder)
Code System Preferred Concept Name	Encephalopathy due to sulfite oxidase deficiency (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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3303629014	Encephalopathy due to sulfite oxidase deficiency	Active	Synonym	false	false
3304304018	Encephalopathy due to sulphite oxidase deficiency	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Anomaly of eye (disorder) {11131000119108 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Central nervous system complication (disorder) {87536007 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Disorder of lens (disorder) {10810001 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Luxation of eye (disorder) {20842008 , 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,