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719254001: Spinocerebellar ataxia type 32 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3315696015 Spinocerebellar ataxia type 32 en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 32 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 32 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 32 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 32 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 32 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 32 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 32 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 32 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 32 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 32 Finding site Spinal cord structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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