67434000: Cytochrome-c oxidase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\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

\trouble métabolique\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency
\trouble métabolique\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
\trouble métabolique\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency

\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

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
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
807158011 Cytochrome-c oxidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cytochrome-c oxidase deficiency	est un(e) (attribut)	Deficiency in enzyme complexes of mitochondrial respiratory chain	true	Inferred relationship	Some
Cytochrome-c oxidase deficiency	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	est un(e) (attribut)	Mitochondrial cytopathy	true	Inferred relationship	Some
Cytochrome-c oxidase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Cytochrome-c oxidase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder)	est un(e) (attribut)	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)	est un(e) (attribut)	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)	est un(e) (attribut)	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Fatal infantile cytochrome C oxidase deficiency (disorder)	est un(e) (attribut)	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	est un(e) (attribut)	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	est un(e) (attribut)	True	Cytochrome-c oxidase deficiency	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)