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

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
5021301000241119 déficit en complexe enzymatique de la chaine respiratoire mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

25 descendants. Search Descendants:

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
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
Deficiency of cytochrome-b>5< reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some
Deficiency of NADPH-ferrihemoprotein 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
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some

This concept is not in any reference sets

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