1366189009: Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Coenzyme Q10 deficiency (disorder)\Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coenzyme Q10 deficiency (disorder)\Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)
• \Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Coenzyme Q10 deficiency (disorder)\Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Coenzyme Q10 deficiency (disorder)\Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)
• \Metabolic disease\Mitochondrial cytopathy\Coenzyme Q10 deficiency (disorder)\Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5457796010	Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457797018	Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457798011	Primary coenzyme Q10 deficiency-1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5457799015	COQ10D1- primary coenzyme Q10 deficiency-1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5457800016	COQ2-gene related coenzyme Q10 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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