| syndroom van hypoplasie van long, agonadisme, dextrocardie en hernia diaphragmatica (aandoening) | | syndroom van hypoplasie van long, agonadisme, dextrocardie en hernia diaphragmatica | | syndroom van pulmonale hypoplasie, agonadisme, dextrocardie en middenrifbreuk
PAGOD-syndroom
'pulmonary hypoplasia, agonadism, omphalocele, dextrocardia, diaphragmatic hernia'-syndroom
| | PAGOD syndrome | | PAGOD (pulmonary hypoplasia, hypoplasia pulmonary artery, agonadism, omphalocele, dextrocardia) syndrome
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome
| | PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. |
| | Id | 722132007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 991 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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