Code System Concept

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Code System Concept

Code System Concept Code	1197746001
Code System Concept Name	AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)
Code System Preferred Concept Name	AKT serine/threonine kinase 2-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Superseded By Concept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 and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4697877010	AKT serine/threonine kinase 2-related familial partial lipodystrophy	Active	Synonym	false	false
4697878017	AKT2-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,