Code System Concept

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Code System Concept

Code System Concept Code	1230005002
Code System Concept Name	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)
Code System Preferred Concept Name	Pigmentation defects, palmoplantar keratoderma, skin carcinoma 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Superseded By Concept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	09/01/2022
SDO Date Created	05/31/2022
SDO Date Revised	05/31/2022
Description	A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5066166017	Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital alopecia (disorder) {2965006 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dystrophia unguium (disorder) {87065009 , SNOMED-CT } Ectodermal dysplasia with hair-nail defect (disorder) {239035009 , SNOMED-CT } Genetic disorder of nail (disorder) {402775007 , SNOMED-CT } Genetic disorder of skin pigmentation (disorder) {724839001 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , SNOMED-CT } Hereditary diffuse palmoplantar keratoderma (disorder) {400123002 , 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,