Code System Concept

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Code System Concept

Code System Concept Code	719835006
Code System Concept Name	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)
Code System Preferred Concept Name	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy 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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	This syndrome has characteristics of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The woolly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3318093013	Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Active	Synonym	false	false
3318095018	Carvajal syndrome	Active	Synonym	false	false
3318099012	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Active	Synonym	false	false
3318100016	Keratoderma with woolly hair type II	Active	Synonym	false	false
3318101017	Keratoderma with wooly hair type II	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 familial wooly hair (disorder) {403795009 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital anomaly of skin (disorder) {199879009 , SNOMED-CT } Congenital wooly hair (disorder) {254231002 , SNOMED-CT } Congestive cardiomyopathy (disorder) {399020009 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Hereditary palmoplantar keratoderma (disorder) {239066003 , 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,