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1259694006: Chorea due to Huntington disease-like 1 (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5157626014 Chorea due to Huntington disease-like 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5157627017 Chorea due to Huntington disease-like 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5157626014 Chorea due to Huntington disease-like 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5157627017 Chorea due to Huntington disease-like 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chorea due to Huntington disease-like 1 (disorder) Is a Chorea co-occurrent and due to Huntington disease-like condition (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to Huntington disease-like 1 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chorea due to Huntington disease-like 1 (disorder) Due to 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. true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chorea due to Huntington disease-like 1 (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chorea due to Huntington disease-like 1 (disorder) Is a Chorea due to heredodegenerative disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to Huntington disease-like 1 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chorea due to Huntington disease-like 1 (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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