Code System Concept

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Code System Concept

Code System Concept Code	723622007
Code System Concept Name	X-linked spastic paraplegia type 2 (disorder)
Code System Preferred Concept Name	X-linked spastic paraplegia type 2 (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	An X-linked leucodystrophy characterised primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3425301013	X-linked spastic paraplegia type 2	Active	Synonym	false	false
3425302018	Spastic gait type 2	Active	Synonym	false	false
3425303011	Spastic paraparesis type 2	Active	Synonym	false	false
3425304017	Spastic paraplegia type 2	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Hereditary spastic paraplegia (disorder) {39912006 , SNOMED-CT } Inherited optic neuropathy (disorder) {312942003 , SNOMED-CT } Leukodystrophy (disorder) {192781003 , SNOMED-CT } Second cranial nerve finding (finding) {106152006 , SNOMED-CT } X-linked hereditary disease (disorder) {128430005 , SNOMED-CT } X-linked hereditary spastic paraplegia (disorder) {724775006 , SNOMED-CT } X-linked recessive hereditary disease (disorder) {1162976004 , 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,