| Carbohydrate deficient glycoprotein syndrome type 2d (disorder) | | 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. | | congenitaal defect in glycosylering type IId | | CDG-syndroom type IId
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| | Id | 725587007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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