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237987001: Deficiency in enzyme complexes of mitochondrial respiratory chain (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
356690012 Deficiency in enzyme complexes of mitochondrial respiratory chain en Synonym Active Entire term case insensitive SNOMED CT core module
626801014 Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


23 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 Existential restriction modifier
Deficiency in enzyme complexes of mitochondrial respiratory chain Finding site Body system structure false Inferred relationship Existential restriction modifier
Deficiency in enzyme complexes of mitochondrial respiratory chain Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Deficiency in enzyme complexes of mitochondrial respiratory chain Is a Enzymopathy true Inferred relationship Existential restriction modifier

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 Existential restriction modifier
Succinate-coenzyme Q reductase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Ubiquinone dehydrogenase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Cytochrome C oxidase deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Complex V deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Combined complex deficiencies Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Deficiency of cytochrome-b>5< reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Deficiency of reduced nicotinamide adenine dinucleotide phosphate-ferrihemoprotein reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Deficiency of NAPH cytochrome-c>2< reductase Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Cytochrome b>3< deficiency Is a False Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Cytochrome-c oxidase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Isolated adenosine triphosphate synthase deficiency Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 25 Is a True Deficiency in enzyme complexes of mitochondrial respiratory chain Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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