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

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3445805019	Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445806018	Ataxia co-occurrent and due to phytanic acid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445807010	Ataxia with Refsum disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3445805019	Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445806018	Ataxia co-occurrent and due to phytanic acid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445807010	Ataxia with Refsum disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445807010	Ataxia with Refsum disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
536011000274114	Ataxie mit Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602811000274117	Ataxie gleichzeitig auftretend mit und verursacht durch Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
536011000274114	Ataxie mit Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602811000274117	Ataxie gleichzeitig auftretend mit und verursacht durch Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module