783178001: Combined oxidative phosphorylation deficiency type 20 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation deficiency type 20
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation deficiency type 20

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757969012	Combined oxidative phosphorylation deficiency type 20 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757970013	Combined oxidative phosphorylation deficiency type 20	en	Synonym	Active	Case insensitive	SNOMED CT core
3757971012	COXPD20 - combined oxidative phosphorylation deficiency type 20	en	Synonym	Active	Case sensitive	SNOMED CT core
3757972017	A rare mitochondrial oxidative phosphorylation disorder with characteristics of variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). Caused by homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.	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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