766876004: Combined oxidative phosphorylation defect type 4 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 4
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 4

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662982014	Combined oxidative phosphorylation defect type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3662983016	COXPD4 - combined oxidative phosphorylation defect type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3662984010	Combined oxidative phosphorylation defect type 4 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662986012	A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	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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