Code System Concept

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Code System Concept

Code System Concept Code	238836000
Code System Concept Name	Kindler epidermolysis bullosa (disorder)
Code System Preferred Concept Name	Kindler 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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). 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
2840887018	Kindler syndrome	Active	Synonym	false	false
357953015	Kindler's syndrome	Active	Synonym	false	false
5361760018	Kindler epidermolysis bullosa	Active	Synonym	false	false
5361761019	Poikiloderma of Kindler	Active	Synonym	false	false
5361762014	Congenital bullous poikiloderma	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Atrophic condition of skin (disorder) {400190005 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Degenerative disorder (disorder) {362975008 , SNOMED-CT } Epidermolysis bullosa (disorder) {61003004 , SNOMED-CT } Hereditary sclerosing poikiloderma (disorder) {238834002 , SNOMED-CT } Skin lesion (disorder) {95324001 , 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,