| glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeendeficiëntie (aandoening) | | glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeendeficiëntie | | GSD type XV
glycogeenstapelingsziekte met ernstige cardiomyopathie door deficiëntie van glycogeen
| | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | | Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
| | An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24. |
| | Id | 717821004 | | Status | Primitive |
| 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 | 263297 |
| 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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