237990007: Ubiquinone dehydrogenase 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)\Disorder of mitochondrial respiratory chain complexes (disorder)\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Ubiquinone dehydrogenase

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\Ubiquinone dehydrogenase

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

356697010 Complex III deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3029316018 Ubiquinone dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3029371017 Ubiquinone dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356696018 Ubiquinone dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356697010 Complex III deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626805017 Ubiquinone dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3029316018 Ubiquinone dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3029316018 Ubiquinone dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3029371017 Ubiquinone dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3029371017 Ubiquinone dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ubiquinone dehydrogenase	Is a	Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ubiquinone dehydrogenase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ubiquinone dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial respiratory chain complex III assembly gene defect	Is a	True	Ubiquinone dehydrogenase	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial respiratory chain complex III structural subunit gene defect (disorder)	Is a	True	Ubiquinone dehydrogenase	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets