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702376003: Huntington disease-like syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995145018 Huntington disease phenocopy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995278018 Huntington disease-like syndrome disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3038744019 Huntington disease-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3038760015 Huntington disease-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
978531000172110 syndrome pseudo-Huntington fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Huntington disease-like syndrome Is a Hereditary cerebellar degeneration false Inferred relationship Some
Huntington disease-like syndrome Associated morphology dégénérescence false Inferred relationship Some 1
Huntington disease-like syndrome Finding site Cerebellar structure false Inferred relationship Some 1
Huntington disease-like syndrome Is a Disorder of basal ganglia (disorder) false Inferred relationship Some
Huntington disease-like syndrome Is a Extrapyramidal disease false Inferred relationship Some
Huntington disease-like syndrome Is a trouble présent principalement avec la chorée false Inferred relationship Some
Huntington disease-like syndrome Finding site Structure of basal nucleus true Inferred relationship Some 1
Huntington disease-like syndrome Interprets mouvement false Inferred relationship Some 2
Huntington disease-like syndrome Has interpretation Abnormal true Inferred relationship Some 2
Huntington disease-like syndrome Is a Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another. true Inferred relationship Some
Huntington disease-like syndrome Interprets mouvement false Inferred relationship Some 3
Huntington disease-like syndrome Interprets Movement observable true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Chorea co-occurrent and due to Huntington disease-like condition (disorder) Due to True Huntington disease-like syndrome Inferred relationship Some 1
Chorea co-occurrent and due to Huntington disease-like condition (disorder) Is a True Huntington disease-like syndrome Inferred relationship Some
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. Is a True Huntington disease-like syndrome Inferred relationship Some
A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. Is a True Huntington disease-like syndrome Inferred relationship Some
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. Is a True Huntington disease-like syndrome Inferred relationship Some
Chorea due to Huntington disease-like 2 (disorder) Due to False Huntington disease-like syndrome Inferred relationship Some 3
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 True Huntington disease-like syndrome Inferred relationship Some

This concept is not in any reference sets

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