| spiergebonden en hartgebonden glycogeensynthasedeficiëntie (aandoening) | | spiergebonden en hartgebonden glycogeensynthasedeficiëntie | | spiergebonden en hartgebonden deficiëntie van glycogeensynthase
spiergebonden en hartgebonden glycogeensynthetasedeficiëntie
| | Muscle and heart glycogen synthase deficiency | | Glycogen storage disease type 0b
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogenosis type 0b
Glycogenosis due to muscle and heart glycogen synthase deficiency
| | This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. |
| | Id | 725027004 | | 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 | 137625 |
| SNOMED CT to ICD-10 extended map | | Target | E74.0 | | Rule | TRUE | | Advice | ALWAYS E74.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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