1208621008: Multiple mitochondrial dysfunctions syndrome type 4 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\Leukodystrophy\Multiple mitochondrial dysfunctions syndrome type 4
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \maladie dégénérative du système nerveux central\Leukodystrophy\Multiple mitochondrial dysfunctions syndrome type 4
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\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 4
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\Multiple mitochondrial dysfunctions syndrome type 4
• \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\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\trouble métabolique\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\trouble métabolique\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 4
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\Congenital 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 4
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\maladie chronique\Chronic metabolic disorder\Multiple mitochondrial dysfunctions syndrome type 4
• \Disease\maladie chronique\trouble neurologique chronique\Multiple mitochondrial dysfunctions syndrome type 4

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
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

Expanded Value Set

This concept is not in any reference sets

Back to Start