724769002: Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leucodystrophy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Ataxia co-occurrent and due to phytanic acid storage disease

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

\Central nervous system complication\Ataxia co-occurrent and due to phytanic acid storage disease

\Degenerative disease of the central nervous system\Leucodystrophy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

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

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Metabolic neuropathy\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage 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\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease\Ataxia co-occurrent and due to phytanic acid storage disease

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

Descriptions:

Id Description Lang Type Status Case? Module

3445805019 Ataxia co-occurrent and due to phytanic acid storage disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3445806018 Ataxia co-occurrent and due to phytanic acid storage disease en Synonym Active Case insensitive SNOMED CT core

3445807010 Ataxia with Refsum disease en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	Metabolic neuropathy	true	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	Central nervous system complication	true	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Due to	Phytanic acid storage disease	true	Inferred relationship	Some	2
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	Ataxia	false	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	Phytanic acid storage disease	true	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Occurrence	Congenital	true	Inferred relationship	Some	5
Ataxia co-occurrent and due to phytanic acid storage disease	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	4
Ataxia co-occurrent and due to phytanic acid storage disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	5
Ataxia co-occurrent and due to phytanic acid storage disease	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	5
Ataxia co-occurrent and due to phytanic acid storage disease	Finding site	Structure of nervous system	false	Inferred relationship	Some	5
Ataxia co-occurrent and due to phytanic acid storage disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	6
Ataxia co-occurrent and due to phytanic acid storage disease	Finding site	Retinal structure	true	Inferred relationship	Some	6
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	Hereditary ataxia	true	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	3
Ataxia co-occurrent and due to phytanic acid storage disease	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	3
Ataxia co-occurrent and due to phytanic acid storage disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Ataxia co-occurrent and due to phytanic acid storage disease	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	1

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
3445805019	Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3445806018	Ataxia co-occurrent and due to phytanic acid storage disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3445807010	Ataxia with Refsum disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core