25362006: 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)
\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)
\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)
\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)
\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)
\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)
\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)

\Neurological lesion\Leucodystrophy\Phytanic acid storage disease (disorder)

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

\Leucodystrophy\Phytanic acid storage disease (disorder)

\Hereditary degenerative disease of central nervous system\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)
\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)
\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)
\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)
\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)
\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)

\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)
\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)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\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)
\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)
\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)
\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)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Phytanic acid storage disease (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\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)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Phytanic acid storage disease (disorder)

Status: current, Not 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
Phytanic acid storage disease (disorder)	Is a	Hereditary motor and sensory neuropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Disorder of lipid storage and metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Disorder of fatty acid metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Cutaneous syndrome with ichthyosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Hereditary retinal dystrophy (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Storage disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Finding site	Nerve structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Phytanic acid storage disease (disorder)	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Phytanic acid storage disease (disorder)	Is a	Neuropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Neuropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Retinitis pigmentosa (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Phytanic acid storage disease (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Phytanic acid storage disease (disorder)	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Phytanic acid storage disease (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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)	3
Phytanic acid storage disease (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Phytanic acid storage disease (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dilated cardiomyopathy due to phytanic acid storage disease (disorder)	Is a	False	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to phytanic acid storage disease (disorder)	Associated with	False	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Due to	True	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Is a	True	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autonomic neuropathy due to Refsum Disease (disorder)	Due to	True	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dilated cardiomyopathy due to phytanic acid storage disease (disorder)	Due to	True	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Due to	True	Phytanic acid storage disease (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
42523018	Phytanic acid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42524012	Refsum's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42525013	Heredopathia atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42526014	Refsum syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42527017	Heredoataxia hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42528010	Refsum-Thiébaut disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42529019	Hereditary sensory-motor neuropathy, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42530012	Refsum-Thiebaut disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
196435018	Hereditary motor and sensory neuropathy, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
196436017	HSMN IV	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
755671017	Phytanic acid storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224865018	Hereditary motor and sensory neuropathy type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1224866017	Heredoataxic atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224867014	Heredoataxic hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42523018	Phytanic acid storage disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42523018	Phytanic acid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42524012	Refsum's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42525013	Heredopathia atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42525013	Heredopathia atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42526014	Refsum syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42527017	Heredoataxia hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42527017	Heredoataxia hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42528010	Refsum-Thiébaut disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42528010	Refsum-Thiébaut disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42529019	Hereditary sensory-motor neuropathy, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42530012	Refsum-Thiebaut disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42531011	HMSN IV	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
196435018	Hereditary motor and sensory neuropathy, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
196436017	HSMN IV	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
755671017	Phytanic acid storage disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755671017	Phytanic acid storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224865018	Hereditary motor and sensory neuropathy type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1224866017	Heredoataxic atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1224866017	Heredoataxic atactica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1224867014	Heredoataxic hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1224867014	Heredoataxic hemeralopica polyneuritiformis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
640171000274114	HSMN 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395041001000111	Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
328031000172114	neuropathie sensitivomotrice héréditaire type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
328031000172114	neuropathie sensitivomotrice héréditaire type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
640171000274114	HSMN 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395041001000111	Refsum-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module