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724227000: Infantile onset spinocerebellar ataxia (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3432877015 Infantile onset spinocerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432878013 Infantile onset spinocerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3432879017 Ohaha syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432880019 Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403283019 Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile onset spinocerebellar ataxia (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Infantile onset spinocerebellar ataxia (disorder) Occurrence Infancy false Inferred relationship Some 3
Infantile onset spinocerebellar ataxia (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Infantile onset spinocerebellar ataxia (disorder) Associated morphology Degeneration false Inferred relationship Some 4
Infantile onset spinocerebellar ataxia (disorder) Occurrence Infancy false Inferred relationship Some 4
Infantile onset spinocerebellar ataxia (disorder) Finding site Spinal cord structure false Inferred relationship Some 4
Infantile onset spinocerebellar ataxia (disorder) Occurrence Infancy true Inferred relationship Some 1
Infantile onset spinocerebellar ataxia (disorder) Occurrence Infancy true Inferred relationship Some 2
Infantile onset spinocerebellar ataxia (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Infantile onset spinocerebellar ataxia (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Infantile onset spinocerebellar ataxia (disorder) Finding site Spinal cord structure true Inferred relationship Some 2
Infantile onset spinocerebellar ataxia (disorder) Finding site Cerebellar structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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