Code System Concept

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Code System Concept

Code System Concept Code	763867001
Code System Concept Name	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome (disorder)
Code System Preferred Concept Name	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus 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Superseded By Concept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	A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal naevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3644757012	SOLAMEN syndrome	Active	Synonym	false	false
3644801011	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Active	Synonym	false	false
3644803014	Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus 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)

Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital vascular malformation (disorder) {400159008 , SNOMED-CT } Epidermal nevus (disorder) {239107007 , SNOMED-CT } Hereditary disorder of lymphatic system (disorder) {363190001 , SNOMED-CT } Lipomatosis (disorder) {402693001 , SNOMED-CT } PTEN hamartoma tumor syndrome (disorder) {722859001 , 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,