1197429000: Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy

\General finding of soft tissue\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Degenerative disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Small vessel cerebrovascular disease (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Disorder of arteriole\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of soft tissue\Vascular disorder\Vascular degeneration\Arteriosclerotic vascular disease\Atherosclerosis of artery\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Cathepsin A-related arteriopathy, strokes, leucoencephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4696307010 Cathepsin A-related arteriopathy, strokes, leucoencephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4696308017 Cathepsin A-related arteriopathy, strokes, leukoencephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4696309013 CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696310015 Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4696311016 CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399744013 A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399745014 A rare genetic cerebral small vessel disease characterised by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leucoencephalopathy. Patients may present with migraine, transient ischaemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leucoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Leukoencephalopathy	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Atherosclerosis of artery	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Small vessel cerebrovascular disease (disorder)	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Disorder of capillaries (disorder)	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Is a	Disorder of arteriole	true	Inferred relationship	Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Some	2
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Finding site	Cerebrovascular system structure	true	Inferred relationship	Some	3
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	4
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Finding site	Structure of arteriole	true	Inferred relationship	Some	1
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Associated morphology	Atherosclerosis	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4696307010	Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696308017	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696309013	CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696310015	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696311016	CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399744013	A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399745014	A rare genetic cerebral small vessel disease characterised by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leucoencephalopathy. Patients may present with migraine, transient ischaemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leucoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core