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719254001: Spinocerebellar ataxia type 32 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315695016 Spinocerebellar ataxia type 32 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315696015 Spinocerebellar ataxia type 32 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402027018 An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402028011 An autosomal dominant cerebellar ataxia type 1 that is characterised by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315695016 Spinocerebellar ataxia type 32 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315695016 Spinocerebellar ataxia type 32 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315696015 Spinocerebellar ataxia type 32 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315696015 Spinocerebellar ataxia type 32 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315697012 Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402027018 An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402028011 An autosomal dominant cerebellar ataxia type 1 that is characterised by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447931001000110 Ataxie, spinozerebelläre, Typ 32 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
882481000172113 ataxie cérébelleuse avec azoospermie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956881000172110 ataxie spinocérébelleuse type 32 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
882481000172113 ataxie cérébelleuse avec azoospermie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956881000172110 ataxie spinocérébelleuse type 32 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447931001000110 Ataxie, spinozerebelläre, Typ 32 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
Spinocerebellar ataxia type 32 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 32 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 32 (disorder) Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 32 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 32 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 32 (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 32 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 32 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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