1279890001: Multiple mitochondrial dysfunctions syndrome type 5 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 5 (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 5 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 5 (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 5 (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 5 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 5 (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 5 (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 5 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 5 (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 5 (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 5 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Multiple mitochondrial dysfunctions syndrome type 5 (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\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 5 (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 5 (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 5 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\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 5 (disorder)
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 5 (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Multiple mitochondrial dysfunctions syndrome type 5 (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
5234364017	Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234365016	ISCA1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234366015	MMDS5 - multiple mitochondrial dysfunctions syndrome type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234367012	ISCA1 (iron-sulfur cluster assembly 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234368019	Multiple mitochondrial dysfunctions syndrome type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234369010	A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234370011	A rare mitochondrial disease characterised by early infantile onset of progressive neurological deterioration with seizures, spasticity and lack of psychomotor development. Brain imaging shows severe leucodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	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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