719517009: Autosomal dominant optic atrophy and cataract (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\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract

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

\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract

\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract

\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\Autosomal dominant optic atrophy and cataract
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\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\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\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\Autosomal dominant optic atrophy and cataract
\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\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\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\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\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\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\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\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\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\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cortical cataract\Autosomal dominant optic atrophy and cataract

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

Descriptions:

Id Description Lang Type Status Case? Module

3316659015 Autosomal dominant optic atrophy and cataract (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3316660013 Autosomal dominant optic atrophy and cataract en Synonym Active Case insensitive SNOMED CT core

3316661012 Autosomal dominant optic atrophy type 3 en Synonym Active Case insensitive SNOMED CT core

3316662017 A form of autosomal dominant optic atrophy with characteristics of 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. Caused by mutations in the OPA3 gene (19q13.32). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant optic atrophy and cataract	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Autosomal dominant optic atrophy and cataract	Finding site	Structure of cortex of lens	true	Inferred relationship	Some	1
Autosomal dominant optic atrophy and cataract	Is a	Dominant hereditary optic atrophy	true	Inferred relationship	Some
Autosomal dominant optic atrophy and cataract	Is a	Cortical cataract	true	Inferred relationship	Some
Autosomal dominant optic atrophy and cataract	Associated morphology	Primary atrophy	true	Inferred relationship	Some	2
Autosomal dominant optic atrophy and cataract	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
Autosomal dominant optic atrophy and cataract	Associated morphology	Cataract	false	Inferred relationship	Some	3
Autosomal dominant optic atrophy and cataract	Finding site	Structure of cortex of lens	false	Inferred relationship	Some	3

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
3316659015	Autosomal dominant optic atrophy and cataract (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316660013	Autosomal dominant optic atrophy and cataract	en	Synonym	Active	Case insensitive	SNOMED CT core
3316661012	Autosomal dominant optic atrophy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3316662017	A form of autosomal dominant optic atrophy with characteristics of 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. Caused by mutations in the OPA3 gene (19q13.32).	en	Definition	Active	Case sensitive	SNOMED CT core