Code System Concept

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Code System Concept

Code System Concept Code	773644000
Code System Concept Name	Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)
Code System Preferred Concept Name	Progeroid and marfanoid aspect, lipodystrophy 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3725349010	Progeroid and marfanoid aspect, lipodystrophy 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)

Congenital anomaly of subcutaneous tissue (disorder) {56759000 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Genetic lipodystrophy (disorder) {724841000 , SNOMED-CT } Marfan's syndrome (disorder) {19346006 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Premature aging syndrome (disorder) {399959003 , 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,