autosomaal recessieve hereditaire aandoening
deficiëntie van 'decay-accelerating factor'
gastro-intestinale complicatie
hereditaire aandoening van immuunsysteem
hereditaire aandoening van spijsverteringsstelsel
protein-losing enteropathy
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syndroom van hyperactivatie van complementsysteem, angiopathische trombose en 'protein-losing' enteropathie (aandoening)
syndroom van hyperactivatie van complementsysteem, angiopathische trombose en 'protein-losing' enteropathie
CHAPLE-syndroom
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome
CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) syndrome
CHAPLE syndrome
A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32.
Id1279887007
StatusPrimitive
Due todeficiëntie van 'decay-accelerating factor'
Finding sitestructuur van intestinum tenue
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map566175
SNOMED CT to ICD-10 extended map
TargetD84.1
RuleTRUE
AdviceALWAYS D84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified