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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain

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

1675521000005118 manglende enzymkomplekser i mitokondriel respirationskæde da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
ATP synthase-mangel	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 (disorder)	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
cytochrom b>3<-mangel	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. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.	Is a	True	Deficiency in enzyme complexes of mitochondrial respiratory chain	Inferred relationship	Some
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 Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome.	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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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
1675521000005118	manglende enzymkomplekser i mitokondriel respirationskæde	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)