719430008: Leber plus disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\...

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

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

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

\Optic atrophy\Congenital atrophy of optic nerve\Leber plus disease
\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy\Leber plus disease

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

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

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

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

\Optic atrophy\Congenital atrophy of optic nerve\Leber plus disease
\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Leber's optic atrophy\Leber plus disease

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

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316313012 Leber plus disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3316314018 Leber plus disease en Synonym Active Case sensitive SNOMED CT core

3316319011 Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leber plus disease	Is a	Leber's optic atrophy	true	Inferred relationship	Some
Leber plus disease	Associated morphology	Primary atrophy	true	Inferred relationship	Some	2
Leber plus disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Leber plus disease	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
Leber plus disease	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316313012	Leber plus disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3316314018	Leber plus disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3316319011	Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations.	en	Definition	Active	Case sensitive	SNOMED CT core