1279891002: Multiple mitochondrial dysfunctions syndrome type 6 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \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\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Developmental disorder\Developmental regression\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Multiple mitochondrial dysfunctions syndrome type 6 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5234371010	Multiple mitochondrial dysfunctions syndrome type 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234372015	PMPCB (peptidase mitochondrial processing subunit beta) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234373013	PMPCB deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234374019	Multiple mitochondrial dysfunctions syndrome type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234375018	A rare mitochondrial disease with characteristics of onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia or optic atrophy among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.	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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