733065003: Myoclonus, cerebellar ataxia, deafness syndrome (disorder)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Extrapyramidal disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Myoclonic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Myoclonus, cerebellar ataxia, deafness syndrome	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Myoclonus, cerebellar ataxia, deafness syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	Disorder of ear	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
3498660011	Myoclonus, cerebellar ataxia, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498661010	Myoclonus, cerebellar ataxia, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403703018	This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403704012	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498660011	Myoclonus, cerebellar ataxia, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498661010	Myoclonus, cerebellar ataxia, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499953014	Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403703018	This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403704012	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3414051001000119	Myoklonie-zerebelläre Ataxie-Taubheit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414051001000119	Myoklonie-zerebelläre Ataxie-Taubheit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module