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20262006: Ataxia (finding)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
34082017 Ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
749277013 Ataxia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2966581012 Ataxia (loss of muscle coordination) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
933681000195112 atassia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66241000077110 ataxie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

233 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ataxia Is a Finding related to coordination / incoordination (finding) true Inferred relationship Some
Ataxia Finding site Structure of nervous system (body structure) false Inferred relationship Some
Ataxia Interprets Nervous system function false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Single limb ataxia Is a True Ataxia Inferred relationship Some
Arms ataxic Is a True Ataxia Inferred relationship Some
Legs ataxic Is a True Ataxia Inferred relationship Some
Truncal ataxia Is a True Ataxia Inferred relationship Some
Static ataxia Is a True Ataxia Inferred relationship Some
Motor ataxia Is a True Ataxia Inferred relationship Some
Hypometria Is a True Ataxia Inferred relationship Some
Spinocerebellar ataxia Is a False Ataxia Inferred relationship Some
On examination - legs ataxic Associated finding False Ataxia Inferred relationship Some
à l'examen : ataxie Associated finding False Ataxia Inferred relationship Some
Congenital non-progressive ataxia Is a True Ataxia Inferred relationship Some
à l'examen : ataxie Associated finding False Ataxia Inferred relationship Some 1
à l'examen : ataxie Is a False Ataxia Inferred relationship Some
Sensory ataxia (finding) Is a True Ataxia Inferred relationship Some
Hypermetria (finding) Is a True Ataxia Inferred relationship Some
Ataxia as sequela of cerebrovascular disease (disorder) Is a True Ataxia Inferred relationship Some
Ataxic hemiparesis (disorder) Is a True Ataxia Inferred relationship Some
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. Is a False Ataxia Inferred relationship Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Is a False Ataxia Inferred relationship Some
Parkinsonian ataxia Is a True Ataxia Inferred relationship Some
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a False Ataxia Inferred relationship Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. Is a False Ataxia Inferred relationship Some
Ataxia due to mitochondrial mutations Is a True Ataxia Inferred relationship Some
Acquired ataxia Is a True Ataxia Inferred relationship Some
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis Is a False Ataxia Inferred relationship Some
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Is a False Ataxia Inferred relationship Some
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) Is a False Ataxia Inferred relationship Some
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. Is a False Ataxia Inferred relationship Some
Cerebellar ataxia Is a True Ataxia Inferred relationship Some
Late onset cerebellar ataxia Is a True Ataxia Inferred relationship Some
Hereditary ataxia (disorder) Is a True Ataxia Inferred relationship Some
Ataxia due to and following ischemic cerebrovascular accident Is a False Ataxia Inferred relationship Some
Ataxia of bilateral lower limbs (finding) Is a True Ataxia Inferred relationship Some
Ataxia of bilateral upper limbs Is a True Ataxia Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. Is a True Ataxia Inferred relationship Some
Ataxia due to cerebrotendinous xanthomatosis Is a True Ataxia Inferred relationship Some
Postinfectious ataxia Is a True Ataxia Inferred relationship Some
Ataxia caused by toxin Is a False Ataxia Inferred relationship Some
Optic ataxia Is a True Ataxia Inferred relationship Some
Ataxia due to multiple system atrophy, cerebellar variant (disorder) Is a True Ataxia Inferred relationship Some
Fisher's syndrome Is a True Ataxia Inferred relationship Some
Ataxia caused by substance (finding) Is a True Ataxia Inferred relationship Some
Cerebellar ataxia with quadrupedal gait Is a False Ataxia Inferred relationship Some
Non-progressive cerebellar ataxia Is a True Ataxia Inferred relationship Some
Spastic ataxia (finding) Is a True Ataxia Inferred relationship Some
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. Is a True Ataxia Inferred relationship Some

This concept is not in any reference sets

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