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723721007: 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
5403150016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403151017 A rare genetic disease characterised by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature greying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403150016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403151017 A rare genetic disease characterised by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature greying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3384181001000117 Sensorineurale Schwerhörigkeit - frühes Ergrauen - essentieller Tremor de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929271000172115 syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929271000172115 syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384181001000117 Sensorineurale Schwerhörigkeit - frühes Ergrauen - essentieller Tremor de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Premature canities (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a Hereditary essential tremor true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sensorineural hearing loss, early greying, essential tremor syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Sensorineural hearing loss, early greying, essential tremor syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural hearing loss, early greying, essential tremor syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Sensorineural hearing loss, early greying, essential tremor syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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