721228006: Huntington disease-like 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Finding of movement (finding)\Involuntary movement\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Huntington disease-like 2 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like 2 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like 2 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\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
3324683013	A severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes with a triad of movement, psychiatric and cognitive abnormalities. Prevalence and incidence are unknown but this disease is very rare, with fewer than 50 families reported worldwide. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian. Caused by expanded trinucleotide repeats of the JPH3 junctophilin 3 gene (16q24.3). Affected individuals have CTG/CAG repeat expansions of 41-59 triplets (normal population: 6-27). Follows an autosomal dominant pattern of inheritance. A relentlessly progressive disorder with a poor prognosis.	en	Definition	Inactive	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

Expanded Value Set

Reference Sets

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

Back to Start