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237986005: Disorder of mitochondrial respiratory chain complexes (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
356689015 Disorder of mitochondrial respiratory chain complexes en Synonym Active Entire term case insensitive SNOMED CT core module
626800010 Disorder of mitochondrial respiratory chain complexes (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3037022018 Mitochondrial disorder, respiratory chain en Synonym Active Entire term case insensitive SNOMED CT core module

59 descendants. Search Descendants:

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 Existential restriction modifier
Disorder of mitochondrial respiratory chain complexes Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Disorder of mitochondrial respiratory chain complexes Finding site Body system structure false Inferred relationship Existential restriction modifier
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 Existential restriction modifier
Deletion and duplication of mitochondrial deoxyribonucleic acid Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Depletion of mitochondrial deoxyribonucleic acid Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein Due to True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier 3
Multiple mitochondrial dysfunctions syndrome Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Chronic diarrhea with villous atrophy syndrome Is a False Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Lethal infantile mitochondrial myopathy Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Due to True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier 2
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 30 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 29 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 27 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 26 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 23 Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Disorder of mitochondrial respiratory chain complexes Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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