721228006: maladie de Huntington-like 2 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Huntington disease-like 2 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Huntington disease-like 2 (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Disorder presenting primarily with chorea (disorder)\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\Huntington disease-like 2 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\Huntington disease-like 2 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Huntington disease-like 2 (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\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
757111000241110	maladie de Huntington-like 2 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
901551000172118	HDL2 - Huntington disease-like 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
999651000172115	maladie de Huntington-like 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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