congenitaal defect in glycosylering type Io (aandoening) | | congenitaal defect in glycosylering type Io | | CDG-syndroom type Io
| | Carbohydrate deficient glycoprotein syndrome type 1o | | Congenital disorder of glycosylation type 1o DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation
| | DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. |
| Id | 725044000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E77.8 | Term | Overige gespecificeerde stoornissen van glycoproteïnemetabolisme |
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SNOMED CT to Orphanet simple map | 263494 |
SNOMED CT to ICD-10 extended map | Target | E77.8 | Rule | TRUE | Advice | ALWAYS E77.8 | 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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