67434000: Cytochrome-c oxidase 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\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency

\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\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency
\Metabolic disease\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cytochrome-c oxidase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Cytochrome-c oxidase deficiency	Is a	Deficiency in enzyme complexes of mitochondrial respiratory chain	true	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Leigh syndrome due to cytochrome C oxidase deficiency (disorder)	Due to	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some	1
Mitochondrial respiratory chain complex IV assembly gene defect (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterised by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
112072013	Cytochrome-c oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
199824017	Cytochrome c oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807158011	Cytochrome-c oxidase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478796012	COX - Cytochrome C oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2478797015	Complex IV deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4554921011	Mitochondrial complex IV deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4610731000241111	déficit en cytochrome-c oxidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module