724172004: McLeod neuroacanthocytosis syndrome (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\McLeod neuroacanthocytosis syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Finding of head region\Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Disorder of head\Encephalopathy\...
• \Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\McLeod neuroacanthocytosis syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\McLeod neuroacanthocytosis syndrome
• \Disease\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3431494011	McLeod neuroacanthocytosis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3431495012	X-linked McLeod syndrome	en	Synonym	Active	Case sensitive	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	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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