Code System Concept

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Code System Concept

Code System Concept Code	719819004
Code System Concept Name	Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
Code System Preferred Concept Name	Xeroderma pigmentosum and Cockayne syndrome complex (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal 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
3318028012	Xeroderma pigmentosum and Cockayne syndrome complex	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) Cockayne syndrome (disorder) {21086008 , SNOMED-CT } Neuropathy (disorder) {386033004 , SNOMED-CT } Xeroderma pigmentosum (disorder) {44600005 , 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,