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278509004: Congenital non-progressive ataxia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
415440014 Congenital non-progressive ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671675015 Congenital non-progressive ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
415440014 Congenital non-progressive ataxia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415440014 Congenital non-progressive ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671675015 Congenital non-progressive ataxia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
671675015 Congenital non-progressive ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5129861000241118 ataxie congénitale non progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5129861000241118 ataxie congénitale non progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital non-progressive ataxia Is a Cerebral palsy false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a Congenital anomaly of nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a Ataxia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Is a Finding of lesion (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital non-progressive ataxia Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital non-progressive ataxia Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital non-progressive ataxia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-progressive ataxia Clinical course Non-progressive (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital non-progressive ataxia Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. Is a True Congenital non-progressive ataxia Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a True Congenital non-progressive ataxia Inferred relationship Existential restriction modifier (core metadata concept)
Dysequilibrium syndrome Is a True Congenital non-progressive ataxia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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