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721228006: Huntington disease-like 2 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324681010 Huntington disease-like 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324682015 Huntington disease-like 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402654019 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402655018 A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterised by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). 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 2 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Disorder of basal ganglia (disorder) false Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Extrapyramidal disease false Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Disorder presenting primarily with chorea false Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Huntington disease-like 2 (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 1
Huntington disease-like 2 (disorder) Associated morphology Acanthocyte false Inferred relationship Some 2
Huntington disease-like 2 (disorder) Is a Hereditary acanthocytosis false Inferred relationship Some
Huntington disease-like 2 (disorder) Finding site Erythrocyte false Inferred relationship Some 3
Huntington disease-like 2 (disorder) Interprets Movement false Inferred relationship Some 4
Huntington disease-like 2 (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Cerebral degeneration (disorder) true Inferred relationship Some
Huntington disease-like 2 (disorder) Is a Huntington disease-like syndrome true Inferred relationship Some
Huntington disease-like 2 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Huntington disease-like 2 (disorder) Interprets Movement true Inferred relationship Some 3
Huntington disease-like 2 (disorder) Interprets Movement observable true Inferred relationship Some 2
Huntington disease-like 2 (disorder) Has interpretation Abnormal true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Chorea due to Huntington disease-like 2 (disorder) Due to True Huntington disease-like 2 (disorder) Inferred relationship Some 2

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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