724172004: McLeod neuroacanthocytosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\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
5403257012	McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403258019	McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterised clinically by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5403257012	McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403258019	McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterised clinically by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431821001000110	McLeod Neuro-Akanthozytose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943961000172118	syndrome de McLeod	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984141000172114	syndrome de McLeod lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943961000172118	syndrome de McLeod	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984141000172114	syndrome de McLeod lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431821001000110	McLeod Neuro-Akanthozytose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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