| 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
| | This disease has characteristics of psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene on the p13.1-p12 region of chromosome 17. |
| | 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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