25362006: Phytanic acid storage disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leucodystrophy\Phytanic acid storage disease

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

\Leucodystrophy\Phytanic acid storage disease

\Hereditary degenerative disease of central nervous system\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
\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
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\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
\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

\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

\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

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\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
\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
\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
\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
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\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
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\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
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\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
\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
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\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
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\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
\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
\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
\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
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Phytanic acid storage disease
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\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
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\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
\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
\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
\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
\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
\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
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Phytanic acid storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Phytanic acid storage disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Phytanic acid storage disease
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1224865018 Hereditary motor and sensory neuropathy type IV en Synonym Active Initial character case insensitive SNOMED CT core

1224866017 Heredoataxic atactica polyneuritiformis en Synonym Active Case insensitive SNOMED CT core

1224867014 Heredoataxic hemeralopica polyneuritiformis en Synonym Active Case insensitive SNOMED CT core

196435018 Hereditary motor and sensory neuropathy, type IV en Synonym Active Initial character case insensitive SNOMED CT core

196436017 HSMN IV en Synonym Active Case sensitive SNOMED CT core

42523018 Phytanic acid storage disease en Synonym Active Case insensitive SNOMED CT core

42524012 Refsum's disease en Synonym Active Case sensitive SNOMED CT core

42525013 Heredopathia atactica polyneuritiformis en Synonym Active Case insensitive SNOMED CT core

42526014 Refsum syndrome en Synonym Active Case sensitive SNOMED CT core

42527017 Heredoataxia hemeralopica polyneuritiformis en Synonym Active Case insensitive SNOMED CT core

42528010 Refsum-Thiébaut disease en Synonym Active Case sensitive SNOMED CT core

42529019 Hereditary sensory-motor neuropathy, type IV en Synonym Active Initial character case insensitive SNOMED CT core

42530012 Refsum-Thiebaut disease en Synonym Active Case sensitive SNOMED CT core

755671017 Phytanic acid storage disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phytanic acid storage disease	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Neuropathy	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Phytanic acid storage disease	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Phytanic acid storage disease	Is a	Hereditary motor and sensory neuropathy	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Disorder of lipid storage and metabolism	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Disorder of fatty acid metabolism	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Disorder of skin AND/OR subcutaneous tissue of head	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Cutaneous syndrome with ichthyosis	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Hereditary retinal dystrophy	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Storage disease	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Hereditary motor and sensory neuropathy	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Phytanic acid storage disease	Is a	Neuropathy	false	Inferred relationship	Some
Phytanic acid storage disease	Finding site	Skin structure	false	Inferred relationship	Some	1
Phytanic acid storage disease	Is a	Leucodystrophy	true	Inferred relationship	Some
Phytanic acid storage disease	Is a	Retinitis pigmentosa	true	Inferred relationship	Some
Phytanic acid storage disease	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Phytanic acid storage disease	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Phytanic acid storage disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Phytanic acid storage disease	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Phytanic acid storage disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Phytanic acid storage disease	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Phytanic acid storage disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Phytanic acid storage disease	Finding site	Retinal structure	true	Inferred relationship	Some	2
Phytanic acid storage disease	Finding site	Nerve structure	false	Inferred relationship	Some
Phytanic acid storage disease	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	4
Phytanic acid storage disease	Finding site	Retinal structure	false	Inferred relationship	Some
Phytanic acid storage disease	Finding site	Structure of skin region	false	Inferred relationship	Some
Phytanic acid storage disease	Occurrence	Congenital	true	Inferred relationship	Some	5
Phytanic acid storage disease	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	1
Phytanic acid storage disease	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	3
Phytanic acid storage disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autonomic neuropathy due to Refsum Disease	Due to	True	Phytanic acid storage disease	Inferred relationship	Some	2
Dilated cardiomyopathy due to phytanic acid storage disease	Due to	True	Phytanic acid storage disease	Inferred relationship	Some	2
Ophthalmoplegia due to phytanic acid storage disease	Due to	True	Phytanic acid storage disease	Inferred relationship	Some	1
Dilated cardiomyopathy due to phytanic acid storage disease	Associated with	False	Phytanic acid storage disease	Inferred relationship	Some	2
Dilated cardiomyopathy due to phytanic acid storage disease	Is a	False	Phytanic acid storage disease	Inferred relationship	Some
Ataxia co-occurrent and due to phytanic acid storage disease	Due to	True	Phytanic acid storage disease	Inferred relationship	Some	2
Ataxia co-occurrent and due to phytanic acid storage disease	Is a	True	Phytanic acid storage disease	Inferred relationship	Some

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
1224865018	Hereditary motor and sensory neuropathy type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1224866017	Heredoataxic atactica polyneuritiformis	en	Synonym	Active	Case insensitive	SNOMED CT core
1224867014	Heredoataxic hemeralopica polyneuritiformis	en	Synonym	Active	Case insensitive	SNOMED CT core
196435018	Hereditary motor and sensory neuropathy, type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
196436017	HSMN IV	en	Synonym	Active	Case sensitive	SNOMED CT core
42523018	Phytanic acid storage disease	en	Synonym	Active	Case insensitive	SNOMED CT core
42524012	Refsum's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
42525013	Heredopathia atactica polyneuritiformis	en	Synonym	Active	Case insensitive	SNOMED CT core
42526014	Refsum syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
42527017	Heredoataxia hemeralopica polyneuritiformis	en	Synonym	Active	Case insensitive	SNOMED CT core
42528010	Refsum-Thiébaut disease	en	Synonym	Active	Case sensitive	SNOMED CT core
42529019	Hereditary sensory-motor neuropathy, type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
42530012	Refsum-Thiebaut disease	en	Synonym	Active	Case sensitive	SNOMED CT core
755671017	Phytanic acid storage disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core