763110007: Combined oxidative phosphorylation defect type 13 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 13
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 13

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637892016	Combined oxidative phosphorylation defect type 13 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3637893014	Combined oxidative phosphorylation defect type 13	en	Synonym	Active	Case insensitive	SNOMED CT core
3637894015	COXPD13 - combined oxidative phosphorylation defect type 13	en	Synonym	Active	Case sensitive	SNOMED CT core
3638151012	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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