26360005: 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\Hereditary optic atrophy (disorder)
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)

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

\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)

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

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)

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

\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)
\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\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease 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 (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)
\Disease\Disorder of body system\Disease 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 (disorder)

Status: current, 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
Hereditary optic atrophy (disorder)	Is a	Primary optic atrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder)	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder)	Associated morphology	Primary atrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary optic atrophy (disorder)	Finding site	Optic nerve structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary optic atrophy (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary optic atrophy (disorder)	Associated morphology	Primary atrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary optic atrophy (disorder)	Is a	Inherited optic neuropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary motor and sensory neuropathy with optic atrophy	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dominant hereditary optic atrophy	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's optic atrophy	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary optic atrophy NOS	Is a	False	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early-onset X-linked optic atrophy (disorder)	Is a	False	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary right optic atrophy (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary left optic atrophy	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Is a	False	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Wolfram-like syndrome	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cerebellar and retinal degeneration (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive optic atrophy type 7 (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
SPOAN and SPOAN-related disorder	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive optic atrophy type 6 (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Childhood-onset autosomal dominant optic atrophy (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked optic atrophy	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Is a	True	Hereditary optic atrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
44142012	Hereditary optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
756783015	Hereditary optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44142012	Hereditary optic atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44142012	Hereditary optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
756783015	Hereditary optic atrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
756783015	Hereditary optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
640351000274119	Hereditäre Sehnervenatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640361000274116	Hereditäre Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4475101000241119	atrophie optique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4475101000241119	atrophie optique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640351000274119	Hereditäre Sehnervenatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640361000274116	Hereditäre Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module