420675003: Supranuclear gaze palsy (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)

\Finding of movement\Movement disorder\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)

\Eye / vision finding\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Supranuclear gaze palsy (disorder)

\Neurological finding (finding)\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)

\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.\Supranuclear gaze palsy (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.\Supranuclear gaze palsy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Supranuclear paralysis\Supranuclear gaze palsy (disorder)
\Disease\Movement disorder\Paralytic syndrome\Supranuclear paralysis\Supranuclear gaze palsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2615792016 Supranuclear gaze palsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2618475013 Supranuclear gaze palsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3876301000005111 supranukleær bliklammelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Supranuclear gaze palsy (disorder)	Is a	Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.	true	Inferred relationship	Some
Supranuclear gaze palsy (disorder)	Is a	Supranuclear paralysis	true	Inferred relationship	Some
Supranuclear gaze palsy (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Supranuclear gaze palsy (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some
Supranuclear gaze palsy (disorder)	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	true	Inferred relationship	Some	2
Supranuclear gaze palsy (disorder)	Interprets	Ocular motility observable	false	Inferred relationship	Some
Supranuclear gaze palsy (disorder)	Interprets	Movement	true	Inferred relationship	Some	4
Supranuclear gaze palsy (disorder)	Interprets	Movement observable (observable entity)	true	Inferred relationship	Some	3
Supranuclear gaze palsy (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.	Is a	True	Supranuclear gaze palsy (disorder)	Inferred relationship	Some

This concept is not in any reference sets