237987001: deficiëntie van enzymcomplexen van mitochondriale ademhalingsketen (aandoening)

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 of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain

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

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

356690012 Deficiency in enzyme complexes of mitochondrial respiratory chain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626801014 Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5925351000146114 deficiëntie van enzymcomplexen van mitochondriale ademhalingsketen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5925361000146112 deficiëntie van enzymcomplexen van mitochondriale ademhalingsketen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	Disorder of mitochondrial respiratory chain complexes	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	Enzymopathy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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 (disorder)	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
ademhalingsketen-complex-5-deficiëntie	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
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
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 ATP synthase deficiency	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
Combined oxidative phosphorylation defect type 25 (disorder)	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some

This concept is not in any reference sets