230312006: Aicardi Goutieres syndrome (disorder)

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

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

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

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

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

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Aicardi Goutieres syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Aicardi Goutieres syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome (disorder)
\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 (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Degenerative disorder\Calcinosis\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Chorea (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Chorea (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of body system\Disease 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 (disorder)
\Disease\Disorder of body system\Disease 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 (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Chorea (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Chorea (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Chorea (disorder)\Basal ganglia degeneration with calcification (disorder)\Aicardi Goutieres syndrome (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
Aicardi Goutieres syndrome (disorder)	Is a	Basal ganglia degeneration with calcification (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aicardi Goutieres syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aicardi Goutieres syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aicardi Goutieres syndrome (disorder)	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aicardi Goutieres syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aicardi Goutieres syndrome (disorder)	Is a	Leucodystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Aicardi Goutieres syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Aicardi Goutieres syndrome (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Aicardi Goutieres syndrome (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Is a	Type I interferonopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Aicardi Goutieres syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Aicardi Goutieres syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aicardi Goutieres syndrome type 1 (disorder)	Is a	True	Aicardi Goutieres syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 2 (disorder)	Is a	True	Aicardi Goutieres syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 3 (disorder)	Is a	True	Aicardi Goutieres syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 4	Is a	True	Aicardi Goutieres syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 5 (disorder)	Is a	True	Aicardi Goutieres syndrome (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
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
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	Only initial character case insensitive (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
3450731001000114	Aicardi-Goutières-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4958061000241110	encéphalopathie familiale avec calcifications intracrâniennes et lymphocytose chronique du liquide cérébrospinal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4958061000241110	encéphalopathie familiale avec calcifications intracrâniennes et lymphocytose chronique du liquide cérébrospinal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450731001000114	Aicardi-Goutières-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module