609559001: Hereditary essential tremor (disorder)

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

\Finding of movement\Movement disorder\Essential tremor\Hereditary essential tremor

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Essential tremor\Hereditary essential tremor
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary essential tremor
\Disease\Movement disorder\Essential tremor\Hereditary essential tremor

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2967755016 Hereditary essential tremor en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2967770015 Hereditary essential tremor (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1813871000195114 tremore essenziale ereditario it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5435221000241112 tremblement essentiel héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary essential tremor	Is a	Essential tremor	true	Inferred relationship	Some
Hereditary essential tremor	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Hereditary essential tremor	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hereditary essential tremor	Interprets	mouvement	false	Inferred relationship	Some	2
Hereditary essential tremor	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.	Is a	True	Hereditary essential tremor	Inferred relationship	Some
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.	Is a	True	Hereditary essential tremor	Inferred relationship	Some
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin.	Is a	True	Hereditary essential tremor	Inferred relationship	Some

This concept is not in any reference sets