1187046005: Aicardi Goutieres syndrome type 2 (disorder)

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

\Neurological lesion\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Neurological lesion\Leucodystrophy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Finding of movement (finding)\Involuntary movement\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\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\Aicardi Goutieres syndrome type 2
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2

\Finding of head and neck region\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\Aicardi Goutieres syndrome type 2

\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Finding of head region\Disorder of basal ganglia (disorder)\...

\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\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\Aicardi Goutieres syndrome type 2

\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aicardi Goutieres syndrome type 2
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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\Aicardi Goutieres syndrome type 2
\Disease\Movement disorder\Extrapyramidal disease\Chorea\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4669238015 Aicardi Goutieres syndrome type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669239011 Aicardi Goutieres syndrome type 2 (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 type 2	Is a	Aicardi Goutieres syndrome	true	Inferred relationship	Some
Aicardi Goutieres syndrome type 2	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
Aicardi Goutieres syndrome type 2	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Aicardi Goutieres syndrome type 2	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Aicardi Goutieres syndrome type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aicardi Goutieres syndrome type 2	Interprets	Movement	true	Inferred relationship	Some	2
Aicardi Goutieres syndrome type 2	Interprets	Movement observable	true	Inferred relationship	Some	3
Aicardi Goutieres syndrome type 2	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Aicardi Goutieres syndrome type 2	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 2	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 2	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 2	Associated morphology	Dystrophy	true	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 2	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	6
Aicardi Goutieres syndrome type 2	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	6
Aicardi Goutieres syndrome type 2	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	6

Inbound Relationships

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Reference Sets