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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
1157641000005116 Kongenit ikke-progredierende ataksi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital non-progressive ataxia Is a A permanent disorder of the development of movement, posture and motor function, causing activity limitation, caused by non-progressive disturbances in the developing fetal or infant brain. false Inferred relationship Some
Congenital non-progressive ataxia Is a Congenital anomaly of nervous system false Inferred relationship Some
Congenital non-progressive ataxia Is a Congenital anomaly of head false Inferred relationship Some
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 Some
Congenital non-progressive ataxia Occurrence Congenital false Inferred relationship Some
Congenital non-progressive ataxia Is a Ataxia true Inferred relationship Some
Congenital non-progressive ataxia Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital non-progressive ataxia Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Congenital non-progressive ataxia Is a Finding of lesion false Inferred relationship Some
Congenital non-progressive ataxia Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Congenital non-progressive ataxia Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital non-progressive ataxia Occurrence Congenital false Inferred relationship Some 2
Congenital non-progressive ataxia Associated morphology dysgenese false Inferred relationship Some 2
Congenital non-progressive ataxia Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital non-progressive ataxia Occurrence Congenital true Inferred relationship Some 1
Congenital non-progressive ataxia Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Congenital non-progressive ataxia Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Congenital non-progressive ataxia Clinical course Non-progressive true Inferred relationship Some 2
Congenital non-progressive ataxia Is a Congenital disease true Inferred relationship Some
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 Some
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. Is a True Congenital non-progressive ataxia Inferred relationship Some
A congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Etiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive. Is a True Congenital non-progressive ataxia Inferred relationship Some

This concept is not in any reference sets

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