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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
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
2995592013 Huntington disease-like syndrome disorder (disorder) en Fully specified name 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
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 Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Huntington disease-like syndrome Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Huntington disease-like syndrome Is a Disorder of basal ganglia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome Is a Extrapyramidal disease false Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome Is a trouble présent principalement avec la chorée false Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Huntington disease-like syndrome Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Huntington disease-like syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Huntington disease-like syndrome Is a Chorea (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Huntington disease-like syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Chorea co-occurrent and due to Huntington disease-like condition (disorder) Is a True Huntington disease-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like 3 Is a True Huntington disease-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) Is a True Huntington disease-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural 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 generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. Is a True Huntington disease-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to Huntington disease-like 2 (disorder) Due to False Huntington disease-like syndrome Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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