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67434000: Cytochrome-c oxidase deficiency (disorder)

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

Descriptions:

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

6 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
Cytochrome-c oxidase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Cytochrome-c oxidase deficiency Is a Deficiency in enzyme complexes of mitochondrial respiratory chain true Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Fatal infantile cytochrome C oxidase deficiency Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier
Leigh syndrome due to cytochrome C oxidase deficiency Due to True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex IV assembly gene defect Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier
Mitochondrial respiratory chain complex IV structural subunit gene defect Is a True Cytochrome-c oxidase deficiency Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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