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715369006: Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302378015 Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3302379011 Autosomal recessive cerebelloparenchymal disorder type 3 en Synonym Active Case insensitive SNOMED CT core
3302380014 Cerebelloparenchymal disorder III en Synonym Active Initial character case insensitive SNOMED CT core
3303324010 SCAR2 (spinocerebellar ataxia autosomal recessive 2) en Synonym Active Case sensitive SNOMED CT core
5155299019 In this disorder cerebellar ataxia is congenital (non-progressive) and with characteristics of cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital intellectual disability and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive cerebelloparenchymal disorder type 3 Pathological process Pathological developmental process true Inferred relationship Some 1
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Autosomal recessive cerebelloparenchymal disorder type 3 Finding site Cerebellar structure true Inferred relationship Some 1
Autosomal recessive cerebelloparenchymal disorder type 3 Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Degenerative abnormality true Inferred relationship Some 4
Autosomal recessive cerebelloparenchymal disorder type 3 Clinical course Non-progressive true Inferred relationship Some 2
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Spinocerebellar ataxia true Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Dysgenesis of the cerebellum true Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a Congenital non-progressive ataxia true Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive cerebelloparenchymal disorder type 3 Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Developmental abnormality false Inferred relationship Some 4
Autosomal recessive cerebelloparenchymal disorder type 3 Occurrence Congenital false Inferred relationship Some 4
Autosomal recessive cerebelloparenchymal disorder type 3 Finding site Cerebellar structure true Inferred relationship Some 4
Autosomal recessive cerebelloparenchymal disorder type 3 Associated morphology Degeneration false Inferred relationship Some 5
Autosomal recessive cerebelloparenchymal disorder type 3 Finding site Cerebellar structure false Inferred relationship Some 5

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

REPLACED BY association reference set

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