Code System Concept

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Code System Concept

Code System Concept Code	1197745002
Code System Concept Name	Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)
Code System Preferred Concept Name	Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (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Superseded By Concept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	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4697871011	FPLD3 - familial partial lipodystrophy type 3	Active	Synonym	false	false
4697872016	PPARG-related familial partial lipodystrophy	Active	Synonym	false	false
4697873014	Familial partial lipodystrophy type 3	Active	Synonym	false	false
4697874015	Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy	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 dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Familial partial lipodystrophy (disorder) {49292002 , SNOMED-CT } Hereditary disorder of endocrine system (disorder) {363104002 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , 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,