230312006: Aicardi Goutieres syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome

\Neurological lesion\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Neurological lesion\Leucodystrophy\Aicardi Goutieres syndrome

\Finding of movement (finding)\Involuntary movement\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Aicardi Goutieres syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Aicardi Goutieres syndrome
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Aicardi Goutieres syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\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)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\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)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome
\Disease\Movement disorder\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome

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

345138018 Aicardi Goutieres syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

618101019 Aicardi Goutieres syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aicardi Goutieres syndrome	Is a	Basal ganglia degeneration with calcification	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
Aicardi Goutieres syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Aicardi Goutieres syndrome	Interprets	Movement	true	Inferred relationship	Some	2
Aicardi Goutieres syndrome	Interprets	Movement observable	true	Inferred relationship	Some	3
Aicardi Goutieres syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Aicardi Goutieres syndrome	Is a	Leucodystrophy	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	4
Aicardi Goutieres syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	4
Aicardi Goutieres syndrome	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	5
Aicardi Goutieres syndrome	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	5
Aicardi Goutieres syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Is a	Type I interferonopathy	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Aicardi Goutieres syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	6
Aicardi Goutieres syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	6
Aicardi Goutieres syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	6

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aicardi Goutieres syndrome type 1	Is a	True	Aicardi Goutieres syndrome	Inferred relationship	Some
Aicardi Goutieres syndrome type 2	Is a	True	Aicardi Goutieres syndrome	Inferred relationship	Some
Aicardi Goutieres syndrome type 3	Is a	True	Aicardi Goutieres syndrome	Inferred relationship	Some
Aicardi Goutieres syndrome type 4 (disorder)	Is a	True	Aicardi Goutieres syndrome	Inferred relationship	Some
Aicardi Goutieres syndrome type 5 (disorder)	Is a	True	Aicardi Goutieres syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345138018	Aicardi Goutieres syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
618101019	Aicardi Goutieres syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core