724172004: McLeod neuroacanthocytosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\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 (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\McLeod neuroacanthocytosis syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\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\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\McLeod neuroacanthocytosis syndrome (disorder)
\Disease\Disorder of head (disorder)\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
McLeod neuroacanthocytosis syndrome (disorder)	Associated morphology	Acanthocyte	true	Inferred relationship	Some	2
McLeod neuroacanthocytosis syndrome (disorder)	Is a	Hereditary acanthocytosis	true	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Is a	Disorder of basal ganglia (disorder)	true	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Is a	Extrapyramidal disease	true	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
McLeod neuroacanthocytosis syndrome (disorder)	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
McLeod neuroacanthocytosis syndrome (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	3
McLeod neuroacanthocytosis syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	4
McLeod neuroacanthocytosis syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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