Code System Concept

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Code System Concept

Code System Concept Code	773692000
Code System Concept Name	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
Code System Preferred Concept Name	Late-onset localized junctional epidermolysis bullosa, intellectual disability 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3725804019	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome	Active	Synonym	false	false
3725805018	Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Amelogenesis imperfecta (disorder) {78494001 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of tooth (disorder) {422977003 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Disorder of hard tissues of teeth (disorder) {46557008 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Localized junctional epidermolysis bullosa (disorder) {254191009 , 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,