11376001: Hereditary acanthocytosis (disorder)

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

\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)

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea acanthocytosis syndrome	Is a	True	Hereditary acanthocytosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
McLeod neuroacanthocytosis syndrome (disorder)	Is a	True	Hereditary acanthocytosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
19689018	Hereditary acanthocytosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
66901000077118	acanthocytose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module