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784371009: Huntington disease-like 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3763830018 Early-onset prion disease with prominent psychiatric features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3763831019 Huntington disease-like 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3763832014 Huntington disease-like 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3763833016 HDL1 - Huntington disease-like 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3763834010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3763835011 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. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Huntington disease-like 1 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) Huntington disease-like syndrome true Inferred relationship Some
Huntington disease-like 1 (disorder) localisation d'une constatation (attribut) Basal ganglion structure (body structure) true Inferred relationship Some 1
Huntington disease-like 1 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Huntington disease-like 1 (disorder) est un(e) (attribut) Cerebral degeneration (disorder) true Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) Hereditary degenerative disease of central nervous system true Inferred relationship Some
Huntington disease-like 1 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Huntington disease-like 1 (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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