58610003: Leber's optic atrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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\Hereditary optic atrophy\Leber's optic atrophy
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy

\Eye / vision finding\Visual system disorder (disorder)\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Leber's optic atrophy
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Leber's optic atrophy
\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\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Leber's optic atrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Leber's optic atrophy
\Disease\Metabolic disease\Mitochondrial cytopathy\Leber's optic atrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leber's optic atrophy	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Leber's optic atrophy	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Leber's optic atrophy	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
Leber's optic atrophy	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Leber's optic atrophy	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Leber's optic atrophy	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	true	Inferred relationship	Some
Leber's optic atrophy	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Leber's optic atrophy	Associated morphology	Primary atrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Leber's optic atrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Leber's optic atrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Leber's optic atrophy	Is a	Degenerative disorder of musculoskeletal system	false	Inferred relationship	Some
Leber's optic atrophy	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Leber's optic atrophy	Associated morphology	Primary atrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Leber's optic atrophy	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	true	Inferred relationship	Some
Leber's optic atrophy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.	Is a	True	Leber's optic atrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
97397016	Leber's optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
797361019	Leber's optic atrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231857010	Leber hereditary optic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231858017	LHON - Leber hereditary optic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231859013	LHON - Leber's hereditary optic neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2839596015	Leber optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4581711000241117	atrophie optique de Leber	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
568451000274114	Heridetäre Leber-Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
645621000274110	LHON	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module