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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.
Id733447005
StatusDefined
Associated morphologyobstructie
Causative agentmeconium
Finding sitestructuur van lumen van ileum
Occurrenceperinatale periode
referentieset met complexe 'mapping' naar ICD-10
TargetP76.0
RuleTRUE
AdviceALWAYS P76.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified