Code System Concept

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Code System Concept

Code System Concept Code	778010006
Code System Concept Name	Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)
Code System Preferred Concept Name	Skin fragility, wooly hair, palmoplantar keratoderma 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Superseded By Concept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 genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3736410010	Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Active	Synonym	false	false
3736411014	Skin fragility, wooly hair, palmoplantar keratoderma 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)

Autosomal hereditary disorder (disorder) {1899006 , SNOMED-CT } Congenital ichthyosis of skin (disorder) {13059002 , SNOMED-CT } Congenital wooly hair (disorder) {254231002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Ectodermal dysplasia (disorder) {8654005 , SNOMED-CT } Hereditary diffuse palmoplantar keratoderma (disorder) {400123002 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Inherited disorder of keratinization (disorder) {254214009 , SNOMED-CT } Keratosis (disorder) {254666005 , SNOMED-CT } Rough skin (finding) {816995008 , SNOMED-CT } Rough skin of hands (finding) {829993001 , 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,