1172843003: Combined oxidative phosphorylation defect type 29 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \affection de la tête\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \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 29
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 29
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \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 29
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \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 29
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
• \Disease\trouble métabolique\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 29
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29

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
4636174013	Combined oxidative phosphorylation defect type 29	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636175014	COXPD29 - combined oxidative phosphorylation defect type 29	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636176010	Combined oxidative phosphorylation defect type 29 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636177018	A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.	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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