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Code System Concept

Code System Concept Code	723508002
Code System Concept Name	RAS-associated autoimmune leukoproliferative disease (disorder)
Code System Preferred Concept Name	RAS-associated autoimmune leukoproliferative disease (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	An extremely rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukaemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3424877014	RAS-associated autoimmune leukoproliferative disease	Active	Synonym	false	false
3424878016	RAS-associated autoimmune leucoproliferative disease	Active	Synonym	false	false
3424879012	Autoimmune lymphoproliferative syndrome type 4	Active	Synonym	false	false
3424880010	Autoimmune lymphoproliferative syndrome type IV	Active	Synonym	false	false
3424881014	RALD - RAS-associated autoimmune leukoproliferative disease	Active	Synonym	false	false
3424882019	RALD - RAS-associated autoimmune leucoproliferative disease	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Immunosuppressed Condition	6
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autoimmune disease (disorder) {85828009 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , SNOMED-CT } Immunodeficiency associated with chromosomal abnormality (disorder) {234632005 , SNOMED-CT } Lymphoproliferative disorder (disorder) {277466009 , 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,