Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	1220589007
Code System Concept Name	Keppen Lubinsky syndrome (disorder)
Code System Preferred Concept Name	Keppen Lubinsky 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Superseded By Concept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 primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalised lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5045300019	Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome	Active	Synonym	false	false
5045302010	Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome	Active	Synonym	false	false
5045303017	Keppen Lubinsky 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 dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Genetic lipodystrophy (disorder) {724841000 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Premature aging syndrome (disorder) {399959003 , SNOMED-CT } Severe intellectual disability (disorder) {40700009 , 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,