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67434000: Cytochrome-c oxidase deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cytochrome-c oxidase deficiency Is a Deficiency in enzyme complexes of mitochondrial respiratory chain true Inferred relationship Some
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 Is a Mitochondrial cytopathy true 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

Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Is a True Cytochrome-c oxidase deficiency Inferred relationship Some
Leigh syndrome due to cytochrome C oxidase deficiency Due to True Cytochrome-c oxidase deficiency Inferred relationship Some 1
Mitochondrial respiratory chain complex IV assembly gene defect Is a True Cytochrome-c oxidase deficiency Inferred relationship Some
Mitochondrial respiratory chain complex IV structural subunit gene defect Is a True Cytochrome-c oxidase deficiency Inferred relationship Some
Fatal infantile cytochrome C oxidase deficiency Is a True Cytochrome-c oxidase deficiency Inferred relationship Some
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type Is a True Cytochrome-c oxidase deficiency Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Cytochrome-c oxidase deficiency Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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