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hemolytisch-uremisch syndroom met deficiëntie van diacylglycerolkinase epsilon (aandoening)
hemolytisch-uremisch syndroom met deficiëntie van diacylglycerolkinase epsilon
HUS met DGKE-deficiëntie
Hemolytic uremic syndrome with DGKE deficiency
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.
Id1269225005
StatusPrimitive
Finding sitestructuur van nier
Finding siteerytrocyt
Associated morphologyschistocyt
Has interpretationgestoord
Interpretsnierfunctie
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationaanwezig
Interpretshemolyse
Associated morphologymicrotrombus
Finding sitestructuur van arteriola
Associated morphologymicrotrombus
Finding sitestructuur van capillair
SNOMED CT to Orphanet simple map357008
SNOMED CT to ICD-10 extended map
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified