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237986005: stoornis van mitochondriale ademhalingsketencomplexen (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

\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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of mitochondrial respiratory chain complexes	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Disorder of mitochondrial respiratory chain complexes	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorder of mitochondrial respiratory chain complexes	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Deletion and duplication of mitochondrial DNA	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Depletion of mitochondrial DNA	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Due to	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some	3
Multiple mitochondrial dysfunctions syndrome (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Chronic diarrhea with villous atrophy syndrome (disorder)	Is a	False	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Lethal infantile mitochondrial myopathy (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Due to	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some	2
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Combined oxidative phosphorylation defect type 30	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Combined oxidative phosphorylation defect type 26	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356689015	Disorder of mitochondrial respiratory chain complexes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626800010	Disorder of mitochondrial respiratory chain complexes (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3037022018	Mitochondrial disorder, respiratory chain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6011521000146113	stoornis van mitochondriale ademhalingsketencomplexen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6011531000146110	stoornis van mitochondriale ademhalingsketencomplexen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)