| congenitaal defect in glycosylering type 1s (aandoening) | | congenitaal defect in glycosylering type 1s | | aangeboren defect in glycosylering type Is
CDG-syndroom type Is
CDG-1s
ALG13-CDG
| | Congenital disorder of glycosylation type 1s | | ALG13-CDG (congenital disorder of glycosylation)
Congenital disorder of glycosylation type Is
| | A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). |
| | Id | 733451007 | | 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 | 324422 |
| 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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