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congenitale enterocyt-heparansulfaatdeficiƫntie (aandoening)
congenitale enterocyt-heparansulfaatdeficiƫntie
Congenital enterocyte heparan sulfate deficiency
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.
Id725591002
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetP78.3
TermNiet-infectieuze neonatale diarree
SNOMED CT to Orphanet simple map103910
SNOMED CT to ICD-10 extended map
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