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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 (disorder)\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:

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

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 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fatal infantile cytochrome C oxidase deficiency (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	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
Isolated cytochrome C oxidase deficiency (disorder)	Is a	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some

This concept is not in any reference sets