721228006: Huntington disease-like 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2
• \Finding of movement\Movement disorder\Extrapyramidal disease\Huntington disease-like 2
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Huntington disease-like 2
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Huntington disease-like 2
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Huntington disease-like 2
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Huntington disease-like 2
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Extrapyramidal disease\Huntington disease-like 2
• \Disorder of basal ganglia\Huntington disease-like 2
• \Finding of head region\Disorder of basal ganglia\Huntington disease-like 2
• \Disorder of head\Encephalopathy\...
• \Extrapyramidal disease\Huntington disease-like 2
• \Disorder of basal ganglia\Huntington disease-like 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Huntington disease-like 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Huntington disease-like 2
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Huntington disease-like 2
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Huntington disease-like 2
• \Disease\Disorder of body system\Neurological disorder\System disorder of the nervous system\Disorder presenting primarily with chorea\Huntington disease-like 2
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Huntington disease-like 2
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Huntington disease-like 2
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Huntington disease-like 2
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Huntington disease-like 2
• \Disease\Movement disorder\Extrapyramidal disease\Huntington disease-like 2

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3324682015	Huntington disease-like 2	en	Synonym	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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