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719301002: Spinocerebellar ataxia type 37 (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315913013 Spinocerebellar ataxia type 37 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3315914019 Spinocerebellar ataxia type 37 en Synonym Active Case insensitive SNOMED CT core
3315915018 Spinocerebellar ataxia with altered vertical eye movement en Synonym Active Case insensitive SNOMED CT core
3315916017 Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. 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 37 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 37 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 37 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 37 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 37 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 37 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 37 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 37 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 37 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 37 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

Description inactivation indicator reference set

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