1208621008: Multiple mitochondrial dysfunctions syndrome type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 4 (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 4 (disorder)
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Disorder of body system\Disease 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 4 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Metabolic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Chronic disease\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Multiple mitochondrial dysfunctions syndrome type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965432011	Multiple mitochondrial dysfunctions syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965433018	MMDS4 - multiple mitochondrial dysfunctions syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965434012	Multiple mitochondrial dysfunctions syndrome type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399856018	A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399857010	A rare, severe, genetic, neurometabolic disease characterised by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalised tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965432011	Multiple mitochondrial dysfunctions syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965433018	MMDS4 - multiple mitochondrial dysfunctions syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965434012	Multiple mitochondrial dysfunctions syndrome type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965435013	A rare severe genetic neurometabolic disease with characteristics of infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalised tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965436014	A rare severe genetic neurometabolic disease with characteristics of infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399856018	A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399857010	A rare, severe, genetic, neurometabolic disease characterised by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalised tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
592591000274116	Multiples mitochondriales Dysfunktions-Syndrom, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420711001000119	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
592591000274116	Multiples mitochondriales Dysfunktions-Syndrom, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420711001000119	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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