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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
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
882481000172113 ataxie cérébelleuse avec azoospermie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
956881000172110 ataxie spinocérébelleuse type 32 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
898261000172115 cerebellaire ataxie met azoöspermie en intellectuele achterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
978831000172113 spinocerebellaire ataxie type 32 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Spinocerebellar ataxia type 32 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 32 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 32 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 32 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 32 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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