| syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas (aandoening) | | syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas | | syndroom van hypoplastische pancreas, intestinale atresie en hypoplastische galblaas
| | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome | | Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome
| | A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. |
| | Id | 773673002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q45.0 | | Term | Agenesie, aplasie en hypoplasie van pancreas |
| Target | Q41.9 | | Term | Congenitale afwezigheid, atresie en stenose van dunne darm, deel niet gespecificeerd |
| Target | Q44.0 | | Term | Agenesie, aplasie en hypoplasie van galblaas |
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| SNOMED CT to Orphanet simple map | 293864 |
| SNOMED CT to ICD-10 extended map | | Target | Q45.8 | | Rule | TRUE | | Advice | ALWAYS Q45.8 | 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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