Code System Concept

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Code System Concept

Code System Concept Code	763658004
Code System Concept Name	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)
Code System Preferred Concept Name	Hypotrichosis, osteolysis, periodontitis, 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3643191010	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Active	Synonym	false	false
3643193013	HOPP 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)

Acroosteolysis (disorder) {27201004 , SNOMED-CT } Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital anomaly of tooth (disorder) {422977003 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , SNOMED-CT } Congenital hypotrichia (disorder) {56558005 , SNOMED-CT } Congenital ichthyosis of skin (disorder) {13059002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Ectodermal dysplasia with hair-tooth-nail defects (disorder) {239015008 , SNOMED-CT } Genetic disorder of nail (disorder) {402775007 , SNOMED-CT } Hereditary acroosteolysis (disorder) {254148004 , SNOMED-CT } Hereditary disorder of tooth (disorder) {1148766007 , 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,