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763597000: Hereditary ataxia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642973011 Hereditary ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642974017 Hereditary ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


140 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary ataxia (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hereditary ataxia (disorder) localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 1
Hereditary ataxia (disorder) est un(e) (attribut) Ataxia true Inferred relationship Some
Hereditary ataxia (disorder) est un(e) (attribut) maladie héréditaire false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome est un(e) (attribut) False Hereditary ataxia (disorder) Inferred relationship Some
Gemignani syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant spastic ataxia type 1 (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Arts syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
syndrome de Marinesco-Sjögren est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
X-linked progressive cerebellar ataxia est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Neuropathy in association with hereditary ataxia est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Christianson syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Neuhauser Eichner Opitz syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Dentatorubropallidoluysian degeneration est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
ataxie spinocérébelleuse dominante est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Episodic ataxia (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome est un(e) (attribut) False Hereditary ataxia (disorder) Inferred relationship Some
ataxie spastique autosomique récessive de Charlevoix-Saguenay est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Spastic paraplegia type 7 (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
ataxie cérébelleuse type Caïman est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
ataxie cérébelleuse non progressive avec déficience intellectuelle est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis (disorder) est un(e) (attribut) False Hereditary ataxia (disorder) Inferred relationship Some
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia co-occurrent and due to abetalipoproteinemia (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Spastic ataxia with congenital miosis est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Ataxia pancytopenia syndrome est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
CLCN2-related leukoencephalopathy est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) est un(e) (attribut) True Hereditary ataxia (disorder) Inferred relationship Some

This concept is not in any reference sets

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