| 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
| | An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22. |
| | 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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