Code System Concept

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Code System Concept

Code System Concept Code	725419003
Code System Concept Name	Centripetalis recessive dystrophic epidermolysis bullosa (disorder)
Code System Preferred Concept Name	Centripetalis recessive dystrophic epidermolysis bullosa (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Superseded By Concept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 extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3442496012	Centripetalis recessive dystrophic epidermolysis bullosa	Active	Synonym	false	false
3442497015	Centripetal recessive dystrophic epidermolysis bullosa	Active	Synonym	false	false
3442498013	RDEB-Ce - recessive dystrophic epidermolysis bullosa centripetalis	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) Recessive dystrophic epidermolysis bullosa (disorder) {48528004 , 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,