763203009: Combined oxidative phosphorylation defect type 15 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 15
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 15

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638152017	COXPD15 - combined oxidative phosphorylation defect type 15	en	Synonym	Active	Case sensitive	SNOMED CT core
3638153010	Combined oxidative phosphorylation defect type 15 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638154016	Combined oxidative phosphorylation defect type 15	en	Synonym	Active	Case insensitive	SNOMED CT core
3638155015	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.	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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