Code System Concept

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Code System Concept

Code System Concept Code	703523004
Code System Concept Name	Spondyloenchondrodysplasia with immune dysregulation (disorder)
Code System Preferred Concept Name	Spondyloenchondrodysplasia with immune dysregulation (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Superseded By Concept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	07/31/2014
SDO Date Created	07/31/2014
SDO Date Revised	07/31/2014
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3008900013	Roifman-Melamed syndrome	Active	Synonym	false	false
3008983013	Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia	Active	Synonym	false	false
3009010014	Spondyloenchondrodysplasia with immune dysregulation	Active	Synonym	false	false
3009635019	Roifman-Costa syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autoimmune disease (disorder) {85828009 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Spondyloenchondrodysplasia (disorder) {254079002 , 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,