Congenital enteropathy due to enteropeptidase deficiency

Orpha code: 168601OMIM code: 226200

Definicja

Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.

Disease data
Klasyfikacja

Disease

Synonimy
Congenital enterokinase deficiency
Wrodzony Niedobór enterokinazy
Kod ORPHA
168601
Kod OMIM
226200
Kod ICD10
K90.8
Kod ICD11
-

No additional description.

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