Code System Concept

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Code System Concept

Code System Concept Code	1197429000
Code System Concept Name	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder)
Code System Preferred Concept Name	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare genetic cerebral small vessel disease with characteristics of 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, 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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4696307010	Cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Active	Synonym	false	false
4696308017	Cathepsin A-related arteriopathy, strokes, leukoencephalopathy	Active	Synonym	false	false
4696309013	CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy	Active	Synonym	false	false
4696311016	CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Atherosclerosis of artery (disorder) {441574008 , SNOMED-CT } Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Disorder of arteriole (disorder) {737161008 , SNOMED-CT } Disorder of capillaries (disorder) {58729003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Leukoencephalopathy (disorder) {22811006 , SNOMED-CT } Small vessel cerebrovascular disease (disorder) {443929000 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,