723721007: Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Essential tremor\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Essential tremor\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Movement disorder\Essential tremor\Hereditary essential tremor\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair colour\Premature canities (disorder)\Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425690014 Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425691013 Sensorineural hearing loss, early graying, essential tremor syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425692018 Sensorineural hearing loss, early greying, essential tremor syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425693011 Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425694017 Syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3980801000052114 syndrom med sensorineural hörselnedsättning, prematur gråhårighet och essentiell tremor sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Premature canities (disorder)	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	Hereditary essential tremor	true	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	2
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3425690014	Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425691013	Sensorineural hearing loss, early graying, essential tremor syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425692018	Sensorineural hearing loss, early greying, essential tremor syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425693011	Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425694017	Syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3980801000052114	syndrom med sensorineural hörselnedsättning, prematur gråhårighet och essentiell tremor	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)