1231683004: Ophthalmoplegia due to phytanic acid storage disease (disorder)

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

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)

\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)

\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\Ophthalmoplegia due to neuropathy (disorder)\Ophthalmoplegia due to phytanic acid storage disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5073794014 Ophthalmoplegia due to phytanic acid storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089898015 Ophthalmoplegia due to hereditary motor and sensory neuropathy type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5110691010 Ophthalmoplegia due to phytanic acid storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

528921000274119 Ophthalmoplegie verursacht durch hereditäre sensomotorische Neuropathie Typ IV de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

594461000274115 Ophthalmoplegie verursacht durch Refsum-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Is a	Ophthalmoplegia due to neuropathy (disorder)	true	Inferred relationship	Some
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Due to	HSMN IV	true	Inferred relationship	Some	1
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	true	Inferred relationship	Some	2
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Interprets	mouvement	false	Inferred relationship	Some	5
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	4
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	4

Inbound Relationships

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Reference Sets