Code System Concept

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Code System Concept

Code System Concept Code	1172844009
Code System Concept Name	Combined oxidative phosphorylation defect type 27 (disorder)
Code System Preferred Concept Name	Combined oxidative phosphorylation defect type 27 (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Superseded By Concept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	09/01/2022
SDO Date Created	09/30/2021
SDO Date Revised	09/30/2021
Description	A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4636178011	Combined oxidative phosphorylation defect type 27	Active	Synonym	false	false
4636180017	COXPD27 - combined oxidative phosphorylation defect type 27	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Degenerative brain disorder (disorder) {52522001 , SNOMED-CT } Developmental and epileptic encephalopathy (disorder) {1275631007 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Disorder of mitochondrial respiratory chain complexes (disorder) {237986005 , SNOMED-CT } Hereditary degenerative disease of central nervous system (disorder) {106018006 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Mitochondrial cytopathy (disorder) {240096000 , 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,