Code System Concept

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Code System Concept

Code System Concept Code	715535009
Code System Concept Name	Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)
Code System Preferred Concept Name	Keratosis palmoplantaris and arrhythmogenic 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the 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
3302962010	Keratosis palmoplantaris and arrythmogenic cardiomyopathy syndrome	Active	Synonym	false	false
3302963017	Naxos disease	Active	Synonym	false	false
3302964011	Keratoderma with woolly hair type I	Active	Synonym	false	false
3302965012	Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy	Active	Synonym	false	false
3318103019	Keratoderma with wooly hair type I	Active	Synonym	false	false
3449835018	Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome	Active	Synonym	false	false
3449836017	Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy	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)

Arrhythmogenic right ventricular cardiomyopathy (disorder) {281170005 , SNOMED-CT } Arrhythmogenic right ventricular dysplasia (disorder) {253528005 , SNOMED-CT } 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 abnormality of foot and toes (disorder) {253966001 , SNOMED-CT } Congenital anomaly of hand (disorder) {34111000 , SNOMED-CT } Congenital anomaly of myocardium (disorder) {204394002 , SNOMED-CT } Congenital anomaly of skin (disorder) {199879009 , SNOMED-CT } Congenital keratoderma (disorder) {6874009 , SNOMED-CT } Congenital right ventricular anomaly (disorder) {871668002 , SNOMED-CT } Congenital wooly hair (disorder) {254231002 , 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,