||||
RAS-geassocieerde auto-immune leukoproliferatieve ziekte (aandoening)
RAS-geassocieerde auto-immune leukoproliferatieve ziekte
ALPS type 4
auto-immuun lymfoproliferatief syndroom type 4
RALD
RAS-geassocieerde auto-immune leukoproliferatieve aandoening
RAS-associated autoimmune leukoproliferative disease
Autoimmune lymphoproliferative syndrome type IV
Autoimmune lymphoproliferative syndrome type 4
RALD - RAS-associated autoimmune leukoproliferative disease
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.
Id723508002
StatusPrimitive
Associated morphologylymfoproliferatieve aandoening
Pathological processauto-immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD72.8
TermOverige gespecificeerde aandoeningen van witte bloedcellen
SNOMED CT to Orphanet simple map268114
SNOMED CT to ICD-10 extended map
TargetD72.8
RuleTRUE
AdviceALWAYS D72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified