764943000: Combined oxidative phosphorylation defect type 2 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 2
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 2

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655698014	Combined oxidative phosphorylation defect type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3655699018	Combined oxidative phosphorylation defect type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655702013	COXPD2 - combined oxidative phosphorylation defect type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3655700017	A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	en	Definition	Active	Case sensitive	SNOMED CT core
3655701018	A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by severe intrauterine growth retardation, neonatal limb oedema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	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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