778065005: Combined oxidative phosphorylation defect type 14 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 14
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 14

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737605014	Combined oxidative phosphorylation defect type 14	en	Synonym	Active	Case insensitive	SNOMED CT core
3737606010	Combined oxidative phosphorylation defect type 14 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737607018	COXPD14 - combined oxidative phosphorylation defect type 14	en	Synonym	Active	Case sensitive	SNOMED CT core
3737608011	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anaemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.	en	Definition	Active	Case sensitive	SNOMED CT core
3737609015	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.	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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