| glycogeenstapelingsziekte type II (aandoening) | | glycogeenstapelingsziekte type II | | ziekte van Pompe
| | ziekte van Pompe | | Dit is een aangeboren erfelijke stofwisselingsziekte waarbij een bepaald enzym ontbreekt, wat ophoping van glycogeen en (afval)stoffen veroorzaakt. De kenmerken zijn verzwakking van de spieren en soms hart- en leveraandoeningen. Het komt in ernstige vorm voor bij pasgeborenen (infantiele vorm), en in minder ernstige vorm bij jeugdigen en volwassenen. | | Glycogen storage disease due to acid maltase deficiency | | Alpha-1,4-glucosidase acid deficiency
Pompe disease
Glycogenosis due to acid maltase deficiency
Glycogen storage disease, type II
Glycogenosis type II
Glycogen heart disease
Pompe's disease
| | A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. |
| | Id | 274864009 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.0 | | Term | Glycogeenstapelingsziekte |
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| SNOMED CT to Orphanet simple map | 365 |
| SNOMED CT to MedDRA simple map | 10053185 |
| SNOMED CT to ICD-10 extended map | | Target | E74.0 | | Rule | TRUE | | Advice | ALWAYS E74.0 | 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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