Code System Concept

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Code System Concept

Code System Concept Code	773702002
Code System Concept Name	Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)
Code System Preferred Concept Name	Sterile multifocal osteomyelitis with periostitis and pustulosis (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Superseded By Concept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 severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3725847019	Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency	Active	Synonym	false	false
3725848012	Interleukin-1 receptor antagonist deficiency	Active	Synonym	false	false
3725849016	OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis	Active	Synonym	false	false
3725851017	Sterile multifocal osteomyelitis with periostitis and pustulosis	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Immunosuppressed Condition	6
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autoinflammatory disease (disorder) {42111000175103 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital immunodeficiency disease (disorder) {36138009 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder involving the integument of fetus OR newborn (disorder) {111474003 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Inflammatory disorder of immune system (disorder) {363177008 , SNOMED-CT } Neonatal dermatosis (disorder) {402795001 , SNOMED-CT } Primary immune deficiency disorder (disorder) {58606001 , SNOMED-CT } Pustule (disorder) {271760008 , SNOMED-CT } Skin lesion (disorder) {95324001 , SNOMED-CT } Vesicle of skin (disorder) {827008005 , 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,