Code System Concept

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Code System Concept

Code System Concept Code	724225008
Code System Concept Name	Junctional epidermolysis bullosa non-Herlitz type (disorder)
Code System Preferred Concept Name	Junctional epidermolysis bullosa non-Herlitz type (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Superseded By Concept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 subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition 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
3432832017	Junctional epidermolysis bullosa non-Herlitz type	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 recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Junctional epidermolysis bullosa (disorder) {399971009 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Junctional epidermolysis bullosa non-Herlitz type (disorder) {724225008 , SNOMED-CT } Parent/Child (Relationship Type) Junctional epidermolysis bullosa mitis (disorder) {254196004 , SNOMED-CT } Localized junctional epidermolysis bullosa non-Herlitz type (disorder) {1254890002 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,