1173034002: Combined oxidative phosphorylation defect type 26 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 26
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 26
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 26
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 26
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 26

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4637157015	Combined oxidative phosphorylation defect type 26	en	Synonym	Active	Case insensitive	SNOMED CT core
4637158013	Combined oxidative phosphorylation defect type 26 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4637159017	COXPD26 - combined oxidative phosphorylation defect type 26	en	Synonym	Active	Case sensitive	SNOMED CT core
4637160010	A rare mitochondrial oxidative phosphorylation disorder characterised by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnoea, progressive muscle weakness, spasticity and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.	en	Definition	Active	Case sensitive	SNOMED CT core
4637161014	A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.	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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