1173035001: Combined oxidative phosphorylation defect type 25 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25 (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25 (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25 (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Genetic disease\maladie héréditaire\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\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\trouble métabolique\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\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\trouble métabolique\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\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\Combined oxidative phosphorylation defect type 25 (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4637162019	Combined oxidative phosphorylation defect type 25 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4637163012	Combined oxidative phosphorylation defect type 25	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4637164018	COXPD25 - combined oxidative phosphorylation defect type 25	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4637165017	A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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