724172004: syndrome de McLeod (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\McLeod neuroacanthocytosis syndrome (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (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\McLeod neuroacanthocytosis syndrome (disorder)
• \Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (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\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (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\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (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\McLeod neuroacanthocytosis syndrome (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)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3431493017	McLeod neuroacanthocytosis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431494011	McLeod neuroacanthocytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431495012	X-linked McLeod syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
760321000241110	syndrome de McLeod (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
943961000172118	syndrome de McLeod	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
984141000172114	syndrome de McLeod lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3431496013	A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site.	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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