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237987001: Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain

\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain

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

Descriptions:

Id Description Lang Type Status Case? Module

356690012 Deficiency in enzyme complexes of mitochondrial respiratory chain en Synonym Active Case insensitive SNOMED CT core

626801014 Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	Enzymopathy	true	Inferred relationship	Some
Deficiency in enzyme complexes of mitochondrial respiratory chain	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency in enzyme complexes of mitochondrial respiratory chain	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	Mitochondrial respiratory chain complexes disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Isolated adenosine triphosphate synthase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Combined oxidative phosphorylation defect type 25	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Deficiency of cytochrome-b>5< reductase	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Deficiency of NADPH-ferrihaemoprotein reductase	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Deficiency of NAPH cytochrome-c>2< reductase	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Cytochrome b>3< deficiency	Is a	False	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Cytochrome-c oxidase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Succinate-coenzyme Q reductase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Ubiquinone dehydrogenase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Cytochrome c oxidase deficiency	Is a	False	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Complex V deficiency	Is a	False	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Combined complex deficiencies	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356690012	Deficiency in enzyme complexes of mitochondrial respiratory chain	en	Synonym	Active	Case insensitive	SNOMED CT core
626801014	Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core