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237986005: Disorder of mitochondrial respiratory chain complexes (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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

1454031000168112 Mitochondrial respiratory chain complexes disorder en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension

3037022018 Mitochondrial disorder, respiratory chain en Synonym Active Case insensitive SNOMED CT core

356689015 Disorder of mitochondrial respiratory chain complexes en Synonym Active Case insensitive SNOMED CT core

626800010 Disorder of mitochondrial respiratory chain complexes (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Due to	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some	2
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 30	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 26	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Deletion and duplication of mitochondrial DNA	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Depletion of mitochondrial DNA	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein	Due to	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some	3
Multiple mitochondrial dysfunctions syndrome	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Acyl-CoA dehydrogenase 9 deficiency	Is a	True	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Chronic diarrhoea with villous atrophy syndrome	Is a	False	Mitochondrial respiratory chain complexes disorder	Inferred relationship	Some
Lethal infantile mitochondrial myopathy	Is a	True	Mitochondrial respiratory chain complexes disorder	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
1454031000168112	Mitochondrial respiratory chain complexes disorder	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
3037022018	Mitochondrial disorder, respiratory chain	en	Synonym	Active	Case insensitive	SNOMED CT core
356689015	Disorder of mitochondrial respiratory chain complexes	en	Synonym	Active	Case insensitive	SNOMED CT core
626800010	Disorder of mitochondrial respiratory chain complexes (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core