| congenitaal defect in glycosylering type Im (aandoening) | | congenitaal defect in glycosylering type Im | | CDG-syndroom type Im
| | Carbohydrate deficient glycoprotein syndrome type 1m | | Carbohydrate deficient glycoprotein syndrome type Im
CDG1M - carbohydrate deficient glycoprotein syndrome type 1m
| | This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. |
| | Id | 718712005 | | 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 | 91131 |
| SNOMED CT to ICD-10 extended map | | Target | E77.8 | | Rule | TRUE | | Advice | ALWAYS E77.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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