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70835005: Disorder of basal ganglia (disorder)

Status: current, 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
2468915019 Disorder of basal ganglia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2474917015 Disorder of basal ganglia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
275981000077116 affection des noyaux basaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

211 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of basal ganglia (disorder) Is a Extrapyramidal disease false Inferred relationship Some
Disorder of basal ganglia (disorder) Finding site Structure of basal nucleus true Inferred relationship Some 1
Disorder of basal ganglia (disorder) Is a Disorder of brain (disorder) true Inferred relationship Some
Disorder of basal ganglia (disorder) Is a Finding of head region true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Pallidal degeneration Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Basal ganglia degeneration with calcification Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Hemichorea Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
mouvement involontaire anormal Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
syndrome de Shy-Drager Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Corticobasal degeneration Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Athetosis with rigidity (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Pigmentary pallidal degeneration Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Parkinsonism Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Choreoathetosis Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Huntington's chorea Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Pallidonigroluysian degeneration Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Hemiballism Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Choreoacanthocytosis Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Neuroleptic malignant syndrome Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Malignant neoplasm of basal ganglia Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Basal ganglia hemorrhage Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Status marmoratus Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Infarction of basal ganglia (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Spondyloenchondromatosis with basal ganglia calcification (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Progressive supranuclear ophthalmoplegia Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Neuroferritinopathy (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
Huntington disease-like syndrome Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Calcification of basal ganglia (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Cerebrovascular accident of basal ganglia (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported. Is a False Disorder of basal ganglia (disorder) Inferred relationship Some
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another. Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Atrophy of caudate nucleus (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some
Cyst of basal ganglia (disorder) Is a True Disorder of basal ganglia (disorder) Inferred relationship Some

This concept is not in any reference sets

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