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67434000: Cytochrome-c oxidase deficiency (disorder)

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
112072013 Cytochrome-c oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 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
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
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

7 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome-c oxidase deficiency Is a Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Fatal infantile cytochrome C oxidase deficiency (disorder) Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Leigh syndrome due to cytochrome C oxidase deficiency Due to True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial respiratory chain complex IV assembly gene defect (disorder) Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial respiratory chain complex IV structural subunit gene defect Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Isolated cytochrome C oxidase deficiency Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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