724575009: 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)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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)

\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)
\Metabolic disease\Mitochondrial cytopathy\Coenzyme Q10 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3435711013 Coenzyme Q10 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3435712018 Coenzyme Q10 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

955181000172114 déficit en CoQ10 (coenzyme Q10) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

979791000172113 déficit en coenzyme Q10 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coenzyme Q10 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	Specific enzyme deficiency	false	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	Due to	False	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some	4
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	Due to	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some	5
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	Is a	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.	Is a	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some
Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder)	Is a	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets