Code System Concept

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Code System Concept

Code System Concept Code	723512008
Code System Concept Name	Revesz syndrome (disorder)
Code System Preferred Concept Name	Revesz syndrome (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Superseded By Concept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	A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3424892010	Revesz syndrome	Active	Synonym	false	false
3424893017	Dyskeratosis congenita with bilateral exudative retinopathy	Active	Synonym	false	false
3424894011	Retinopathy, anemia, central nervous system anomalies syndrome	Active	Synonym	false	false
3424895012	Retinopathy, anaemia, central nervous system anomalies syndrome	Active	Synonym	false	false
3424896013	Revesz DeBuse syndrome	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)

Autosomal dominant dyskeratosis congenita (disorder) {707273001 , SNOMED-CT } Constitutional aplastic anemia (disorder) {28975000 , SNOMED-CT } Hereditary disorder of cellular element of blood (disorder) {414393003 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Hereditary white blood cell disorder (disorder) {414395005 , SNOMED-CT } Inherited platelet disorder (disorder) {234469001 , SNOMED-CT } Retinal disorder (disorder) {29555009 , 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,