| congenitaal defect in glycosylering type Iw (aandoening) | | congenitaal defect in glycosylering type Iw | | CDG-syndroom type Iw
| | Congenital disorder of glycosylation type 1w | | Congenital disorder of glycosylation type Iw
STT3A-CDG (congenital disorder of glycosylation)
| | STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). |
| | Id | 733111000 | | 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 | 370921 |
| 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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