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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


24 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-ferrihaemoprotein 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
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some
Isolated ATP synthase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) 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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