723508002: RAS-associated autoimmune leukoproliferative disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\RAS-associated autoimmune leucoproliferative disease
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\RAS-associated autoimmune leucoproliferative disease
• \Disorder of immune function\Autoimmune disease\RAS-associated autoimmune leucoproliferative disease
• \Disorder of haematopoietic morphology\Lymphoproliferative disorder\RAS-associated autoimmune leucoproliferative disease

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424876017	RAS-associated autoimmune leukoproliferative disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3424877014	RAS-associated autoimmune leukoproliferative disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3424878016	RAS-associated autoimmune leucoproliferative disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3424879012	Autoimmune lymphoproliferative syndrome type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3424880010	Autoimmune lymphoproliferative syndrome type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424881014	RALD - RAS-associated autoimmune leukoproliferative disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3424882019	RALD - RAS-associated autoimmune leucoproliferative disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3424883012	An extremely rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. 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 leukemia. 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3424884018	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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