| intestinale obstructie bij neonaat door gyanylaatcyclase-2C-deficiëntie (aandoening) | | intestinale obstructie bij neonaat door gyanylaatcyclase-2C-deficiëntie | | meconiumileus door gyanylaatcyclase-2C-deficiëntie
| | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency | | Meconium ileus due to guanylate cyclase 2C deficiency
| | An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | P76.0 | | Term | Meconium-plugsyndroom |
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| SNOMED CT to Orphanet simple map | 314376 |
| SNOMED CT to ICD-10 extended map | | Target | P76.0 | | Rule | TRUE | | Advice | ALWAYS P76.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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