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congenitale enterocyt-heparansulfaatdeficiƫntie (aandoening)
congenitale enterocyt-heparansulfaatdeficiƫntie
Congenital enterocyte heparan sulfate deficiency
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.
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