1222680009: Combined oxidative phosphorylation defect type 24 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 24
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 24

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048480019	Combined oxidative phosphorylation defect type 24	en	Synonym	Active	Case insensitive	SNOMED CT core
5048481015	Combined oxidative phosphorylation defect type 24 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048482010	COXPD24 - combined oxidative phosphorylation defect type 24	en	Synonym	Active	Case sensitive	SNOMED CT core
5048483017	A rare mitochondrial oxidative phosphorylation disorder with a variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings and diffuse cerebral atrophy may be associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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