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717332007: Cerebellar ataxia Cayman type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3309073019 Cerebellar ataxia Cayman type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309074013 Cerebellar ataxia Cayman type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309075014 Cayman ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401561012 A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401562017 A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterised by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. 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
Cerebellar ataxia Cayman type (disorder) Is a Cerebellar ataxia true Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Cerebellar ataxia Cayman type (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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