11376001: Hereditary acanthocytosis (disorder)

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

\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

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

\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
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis
\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
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary acanthocytosis
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary acanthocytosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

19689018 Hereditary acanthocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

652209019 Hereditary acanthocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

66901000077118 acanthocytose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary acanthocytosis	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary acanthocytosis	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Some
Hereditary acanthocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary acanthocytosis	Associated morphology	Acanthocyte	true	Inferred relationship	Some	1
Hereditary acanthocytosis	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	2
Hereditary acanthocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary acanthocytosis	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hereditary acanthocytosis	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary acanthocytosis	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea acanthocytosis syndrome	Is a	True	Hereditary acanthocytosis	Inferred relationship	Some
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).	Is a	False	Hereditary acanthocytosis	Inferred relationship	Some
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.	Is a	True	Hereditary acanthocytosis	Inferred relationship	Some

This concept is not in any reference sets