1220598005: Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Hereditary degenerative disease of central nervous system\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \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\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \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\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5045351013	Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045355016	Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045356015	Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399970019	A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399971015	A rare mitochondrial disease characterised by a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients, and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045351013	Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045355016	Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045356015	Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045353011	A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045354017	A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399970019	A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399971015	A rare mitochondrial disease characterised by a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients, and marked recovery of milestones may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442761001000117	Non-progressive vorwiegend posteriore kavitierende Leukenzephalopathie mit peripherer Neuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442761001000117	Non-progressive vorwiegend posteriore kavitierende Leukenzephalopathie mit peripherer Neuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

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

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