| congenitaal defect in glycosylering type If (aandoening) | | congenitaal defect in glycosylering type If | | CDG-syndroom type If
| | Congenital disorder of glycosylation type 1f | | Mannose-P-dolichol utilization defect 1
Carbohydrate deficient glycoprotein syndrome type If
MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation
| | A rare disorder of multiple-pathway glycosylation characterized by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. |
| | Id | 724096007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79323 |
| 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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