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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
356690012 Deficiency in enzyme complexes of mitochondrial respiratory chain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

24 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Is a Disorder of mitochondrial respiratory chain complexes (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-coenzyme Q reductase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquinone dehydrogenase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome C oxidase deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Complex V deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined complex deficiencies Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cytochrome-b>5< reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of NADPH-ferrihaemoprotein reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of NAPH cytochrome-c>2< reductase (disorder) Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome b>3< deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated ATP synthase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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