2065009: Dominant hereditary 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 (disorder)\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy

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

\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy

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

\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy

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

\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\Dominant hereditary 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 (disorder)\Hereditary optic atrophy\Dominant hereditary 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\Dominant hereditary 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\Dominant hereditary 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\Dominant hereditary 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
Dominant hereditary optic atrophy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Dominant hereditary optic atrophy	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
Dominant hereditary optic atrophy	Finding site	Optic nerve structure (body structure)	false	Inferred relationship	Some	1
Dominant hereditary optic atrophy	Associated morphology	Primary atrophy	false	Inferred relationship	Some	1
Dominant hereditary optic atrophy	Is a	Inherited optic neuropathy	false	Inferred relationship	Some
Dominant hereditary optic atrophy	Finding site	Optic nerve structure (body structure)	true	Inferred relationship	Some	1
Dominant hereditary optic atrophy	Associated morphology	Primary atrophy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.	Is a	True	Dominant hereditary optic atrophy	Inferred relationship	Some
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.	Is a	True	Dominant hereditary optic atrophy	Inferred relationship	Some
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	Is a	True	Dominant hereditary optic atrophy	Inferred relationship	Some
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).	Is a	True	Dominant hereditary optic atrophy	Inferred relationship	Some
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	Is a	True	Dominant hereditary optic atrophy	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
4555010	Dominant hereditary optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749857010	Dominant hereditary optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222464011	Autosomal dominant optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2300171000005115	Dominant hereditær opticusatrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)