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congenitale chronische diarree met 'protein-losing enteropathy' (aandoening)
congenitale chronische diarree met 'protein-losing enteropathy'
congenitale chronische diarree met 'protein-losing' enteropathie
aangeboren chronische diarree met exsudatieve enteropathie
Congenital chronic diarrhea with protein-losing enteropathy
Congenital chronic diarrhea with exudative enteropathy
A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene.
Id773579007
StatusPrimitive
Has interpretationgewijzigd
Interpretsdefecatiepatroon
Clinical coursechronisch
referentieset met complexe 'mapping' naar ICD-10
TargetP78.3
RuleTRUE
AdviceALWAYS P78.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified