Code System Concept

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Code System Concept

Code System Concept Code	719104003
Code System Concept Name	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
Code System Preferred Concept Name	Autosomal recessive palmoplantar keratoderma and congenital alopecia 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Superseded By Concept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	A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3314999017	Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Active	Synonym	false	false
3315000017	Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type	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 hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital alopecia (disorder) {2965006 , SNOMED-CT } Congenital ectodermal defect (disorder) {254154003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Ectodermal dysplasia (disorder) {8654005 , 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,