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

\Central nervous system finding\Finding of brain\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)\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)\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)\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)\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\Hereditary degenerative disease of central nervous system\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\Lesion of brain\Cerebral calcification\Calcification of basal ganglia (disorder)\Basal ganglia degeneration with calcification\Aicardi Goutieres syndrome\Aicardi Goutieres syndrome type 2
\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
\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

\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

\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

\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Aicardi Goutieres syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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 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\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\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 type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Disorder presenting primarily with chorea (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)\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)\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\Hereditary degenerative disease of central nervous system\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\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)\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

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

5334041000052115 Aicardi-Goutierès syndrom, typ 2 sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	true	Inferred relationship	Some
Aicardi Goutieres syndrome type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
5334041000052115	Aicardi-Goutierès syndrom, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)