| congenitaal defect in glycosylering type IId (aandoening) | | congenitaal defect in glycosylering type IId | | CDG-syndroom type IId
| | Carbohydrate deficient glycoprotein syndrome type 2d | | Congenital disorder of glycosylation type 2d
Carbohydrate deficient glycoprotein syndrome type IId
B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation
Congenital disorder of glycosylation type IId
Beta-1,4-galactosyltransferase deficiency
| | A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. |
| | Id | 725587007 | | 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 | 79332 |
| 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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