SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/725591002
http://purl.bioontology.org/ontology/SNOMEDCT/725591002
Preferred Name

Congenital enterocyte heparan sulfate deficiency

Definitions
Disease that is characterized by massive enteric protein loss, secretory diarrhea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulfate. All three infants required total parenteral nutrition and repeated albumin infusions. Disease that is characterised by massive enteric protein loss, secretory diarrhoea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulphate. All three infants required total parenteral nutrition and repeated albumin infusions.
Synonyms
Congenital enterocyte heparan sulphate deficiency
Congenital enterocyte heparan sulfate deficiency (disorder)
Type http://www.w3.org/2002/07/owl#Class
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