76976005: Optic atrophy (disorder)

\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder (disorder)\Disorder of optic nerve\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
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Optic atrophy	Is a	Disorder of optic nerve	true	Inferred relationship	Some
Optic atrophy	Associated morphology	Atrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Optic atrophy	Finding site	Optic nerve structure (body structure)	false	Inferred relationship	Some	1
Optic atrophy	Is a	Degenerative disorder	false	Inferred relationship	Some
Optic atrophy	Is a	Neurological lesion	false	Inferred relationship	Some
Optic atrophy	Finding site	Optic nerve structure (body structure)	true	Inferred relationship	Some	1
Optic atrophy	Associated morphology	Atrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Optic atrophy	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Optic atrophy secondary to retinal disease	Is a	True	Optic atrophy	Inferred relationship	Some
Post-compressive optic atrophy	Is a	False	Optic atrophy	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	False	Optic atrophy	Inferred relationship	Some
Partial optic atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
Compressive optic atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
Glaucomatous atrophy of optic disc	Is a	False	Optic atrophy	Inferred relationship	Some
Secondary optic atrophy (disorder)	Is a	True	Optic atrophy	Inferred relationship	Some
Complete optic atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
Optic atrophy associated with retinal dystrophy	Is a	True	Optic atrophy	Inferred relationship	Some
Primary optic atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	Is a	False	Optic atrophy	Inferred relationship	Some
Atrophy of optic disc	Is a	True	Optic atrophy	Inferred relationship	Some
Retrobulbar optic nerve atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
uspecificeret atrofi af nervus opticus	Is a	False	Optic atrophy	Inferred relationship	Some
atrofi af nervus opticus, ikke nærmere specificeret	Is a	False	Optic atrophy	Inferred relationship	Some
Behr syndrome	Is a	False	Optic atrophy	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	Is a	True	Optic atrophy	Inferred relationship	Some
Optic atrophy of left eye	Is a	True	Optic atrophy	Inferred relationship	Some
Optic atrophy of right eye	Is a	True	Optic atrophy	Inferred relationship	Some
Syphilitic optic atrophy	Is a	True	Optic atrophy	Inferred relationship	Some
A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.	Is a	True	Optic atrophy	Inferred relationship	Some
Optic atrophy due to late syphilis (disorder)	Is a	True	Optic atrophy	Inferred relationship	Some
History of optic atrophy (situation)	Associated finding	True	Optic atrophy	Inferred relationship	Some	1
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	Is a	True	Optic atrophy	Inferred relationship	Some
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.	Is a	True	Optic atrophy	Inferred relationship	Some
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	Is a	True	Optic atrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
127783019	Optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
200625011	Optic nerve atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503423016	OA - Optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
817755012	Optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2608431000005118	Nervus opticus-atrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)