Code System Concept

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Code System Concept

Code System Concept Code	785305006
Code System Concept Name	Autosomal dominant spastic paraplegia type 8 (disorder)
Code System Preferred Concept Name	Autosomal dominant spastic paraplegia type 8 (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Superseded By Concept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	07/31/2019
SDO Date Created	07/31/2019
SDO Date Revised	07/31/2019
Description	A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3766856017	Autosomal dominant spastic paraplegia type 8	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary spastic paraplegia (disorder) {737227004 , SNOMED-CT } Chronic disorder of spinal cord (disorder) {434371000124108 , SNOMED-CT } Chronic paraplegia (disorder) {698292000 , 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,